Prof. Dr. med. Jürgen Kohlhase Praxis für … · wir in der Regel auch Gendosisanalysen mittels quantitativer Real-Time PCR (Borozdin et al. 2004) oder MLPA an. Leistungen gemäß

Prof. Dr. med. Jürgen Kohlhase Praxis für Humangenetik Heinrich-von-Stephan-Str. 5 79100 Freiburg Tel. 0761-896454-0 Fax 0761-896454-9 [email protected] http://www.humangenetik-freiburg.de

Anforderungsformular Molekular- und Zytogenetische Diagnostik. Leistungsverzeichnis (Auszug) siehe Rückseite (vollständiges Leistungsverzeichnis siehe: www.humangenetik-freiburg.de) Humangenetische Leistungen berühren nicht das Laborbudget!

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------------------------------ Praxis für Humangenetik Prof. Dr. med. Jürgen Kohlhase Facharzt für Humangenetik Heinrich-von-Stephan-Str. 5

79100 Freiburg

Telefon (+49) (0)761 / 896454-0

Telefax (+49) (0)761 / 896454-9

E-Mail: [email protected]

http://www.humangenetik-freiburg.de

Praxis für Humangenetik Heinrich-von-Stephan-Str. 5 D-79100 Freiburg

3

1 - Metabolic Diseases17 hydroxylation activity deficiency (CYP17A1)

3-beta-hydroxysteroid dehydrogenase deficiency type II (HSD3B2)

3-methylglutaconic aciduria, type I (AUH )

3-methylglutaconic aciduria, type III (OPA3)

B Acyl-CoA, medium-chain, dehydrogenase deficiency (ACADM)

Acyl-CoA, multiple, dehydrogenase deficiency (ETFDH)

B Acyl-CoA, multiple, dehydrogenase deficiency (ETFA)

Acyl-CoA, multiple, dehydrogenase deficiency (ETFB)

B B Acyl-CoA, short-chain, dehydrogenase deficiency (ACADS)

B Acyl-CoA, very long-chain, dehydrogenase deficiency (ACADVL)

Adrenal hyperplasia congenital due to cytochrome P450 oxidoreductase B

CoA-3-methylcrontonyl carboxylase 2 deficiency (MCCC2)Combined oxidative phosphorylation deficiency 1 (GFM1)

Combined oxidative phosphorylation deficiency 2 (MRPS16)

Combined oxidative phosphorylation deficiency 3 (TSFM)

Combined oxidative phosphorylation deficiency 4 (TUFM)

Combined oxidative phosphorylation deficiency 6 (AIFM1 ) Combined oxidative phosphorylation deficiency 7 (C12ORF65)

Cori Forbes disease (AGL)

Creatine deficiency syndrome X-linked (SLC6A8)Cystic fibrosis (CFTR)

Cystinosis, nephropathic (CTNS) deficiency (POR)

Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (CYP21A2)

Adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiencyCytochrome c oxidase deficiency (COX6B1)

Diabetes insipidus nephrogenic X-Linked (AVPR2)

(CYP11B1)Adrenal hypoplasia, congenital (NR0B1)

Alpha methylacyl CoA racemase deficiency (AMACR)

Andersen disease (GBE1)

Anemia, dyserythropoietic congenital type I (CDAN1)

Anemia, dyserythropoietic congenital type II (SEC23B)

Antitrypsin-alpha-1 deficiency (SERPINA1)

Aplastic anemia (TERC)

B

B

Aplastic anemia (TERT)Aplastic anemia (IFNG)

B

B

B

Aplastic anemia (NBN)

Aplastic anemia (PRF1)

Aplastic anemia (SBDS)

Apolipoprotein C-II deficiency (APOC2)

Apolipoprotein E deficiency (APOE)

Apparent mineralocorticoid excess (HSD11B2)

Arginase deficiency / hyperargininemia (ARG1)

Arginine: Glycine amidinotransferase deficiency (GATM)

Argininosuccinic aciduria / ASL deficiency (ASL)

Bile acid synthesis defect congenital (CYP7B1)

Biotinidase deficiency (BTD)

Bloom syndrome (BLM)

Bronchiectasis with or without elevated sweat chloride 2 (SCNNA1)

Carbamoylphosphate synthetase I deficiency (CPS1)

Carnitine palmitoyltransferase II deficiency (CPT2)

Ceroid lipofuscinosis, neuronal type 1 (PPT1)

Ceroid lipofuscinosis, neuronal type 10 (CTSD)

Ceroid lipofuscinosis, neuronal type 2 (CLN2)

Ceroid lipofuscinosis, neuronal type 3 (CLN3)

Ceroid lipofuscinosis, neuronal type 5 (CLN5) Ceroid lipofuscinosis, neuronal type 6 (CLN6) B

Ceroid lipofuscinosis, neuronal type 7 (MFSD8)

Ceroid lipofuscinosis, neuronal type 8 (CLN8) B

B

B

B

Chanarin-Dorfman syndrome (ABHD5)

Cholestasis familial intrahepatic of pregnancy (ABCB4)

Cholestasis progressive familial intrahepatic 3 (ABCB4)

Citrin deficiency (SLC25A13)

Citrullinemia (ASS1)

Diabetes mellitus insulin-resistant with acanthosis nigricans (INSR)

Diabetes mellitus noninsulin-dependent (KCNJ11)

Diabetes mellitus permanent neonatal (INS)

Diabetes mellitus transient neonatal 3 (KCNJ11)

Diabetes mellitus type 1 (INS)

Epilepsy pyridoxine-dependent (ALDH7A1)

Fabry Disease (GLA)

Factor II deficiency (F2)

Factor V deficiency (F5)

Fanconi anemia - XRCCR2 related (XRCC2)Fanconi Anemia Type A (FANCA)

Fanconi Anemia Type B (FANCB)

Fanconi Anemia Type C (FANCC)Fanconi Anemia Type D1 (BRCA2) Fanconi Anemia Type D2 (FANCD2)

Fanconi Anemia Type E (FANCE)

Fanconi Anemia Type F (FANCF)

Fanconi Anemia Type G (FANCG)

Fanconi Anemia Type I (FANCI)

Fanconi Anemia Type J (BRIP1)

Fanconi Anemia Type L (FANCL)

Fanconi Anemia Type M (FANCM)

Fanconi Anemia Type N (PALB2)

Fanconi Anemia Type P (SLX4)

Fanconi-Bickel syndrome (SLC2A2)

Farber disease (ASAH1)

Fructose intolerance (ALDOB)

Fructose-1,6-bisphosphatase deficiency (FBP1)Fructosuria essential (KHK)

Fucosidosis (FUCA1)

Fumarase deficiency (FH)

Galactokinase deficiency (GALK1)

Galactose epimerase deficiency (GALE)

Galactosemia (GALT)

Gallbladder disease 1 (ABCB4)

Gaucher Disease (GBA)

Glucose-6-phosphate dehydrogenase deficiency with nonspherocytic hemolytic

B B CoA-2 4-dienoyl reductase 1 deficiency (DECR1)

B CoA-3-hydroxy-3-methylglutaryl lyase deficiency (HMGCL)

B CoA-3-hydroxyacyl dehydrogenase deficiency (HADH)

B CoA-3-methylcrontonyl carboxylase 1 deficiency (MCCC1)

anemia (G6PD)

Glutaric acidemia (GCDH)

Glycerol Kinase deficiency (GK)

Glycogen storage disease type 0 muscle (GYS1)

Glycogen storage disease type IA (G6PC)

continued on next page ...

Untersuchungsmaterial: in der Regel 5-10 ml EDTA-Blut, Versand am Entnahmetag, oder DNA.Wir führen die genannten Untersuchungen mit der jeweils sinnvollsten Technik durch, in der Regel mit direkter Sequenzierung oder bei Repeats mit Fragmentanalysen. Falls Dosisveränderungen für die angegebenen Gene beschrieben sind oder häufig Stoppmutationen vorkommen, bieten wir in der Regel auch Gendosisanalysen mittels quantitativer Real-Time PCR (Borozdin et al. 2004) oder MLPA an. Leistungen gemäß Kapitel 11.4 des EBM werden in der dort beschriebenen Reihenfolge durchgeführt (z.B. CFTR, zuerst Mutationspanel, dann ggf. Sequenzierung). Bei Leistungen gemäß EBM Kapitel 11.4 bitten wir um die dort geforderten anamnestischen Angaben. Weitere Tests und Hinweise zur Präanalytik: http://www.humangenetik-freiburg.de

Leistungsverzeichnis (22.01.2013). Bitte gewünschte Untersuchung ankreuzen x. Nicht aufgeführte ggf. hinzufügen oder Ergänzungsblatt beilegen. Ggf. bitten wir um Rücksprache (telefonisch oder per Email). Für die mit B markierten Untersuchungen sind biochemische Analysen verfügbar, die von unserem Kooperationspartner Centogene und nicht von uns durchgeführt werden. Bei Interesse kontaktieren Sie bitte Centogene (http://www.centogene.com, Tel. 0381-2036520)

4

1 - Metabolic Diseases (continued)

B

Hypermanganesemia with dystonia, polycythemia, and cirrhosis (SLC30A10)

Hyperoxaluria primary type I (AGXT)

Hyperoxaluria primary type II (GRHPR)

Hyperphenylalaninemia BH4-deficient C (QDPR)

Hypoaldosteronism congenital due to CMO I deficiency (CYP11B2)

B Isovaleric azidemia (IVD)

B Krabbe disease (GALC)

L-2-hydroxyglutaric aciduria (L2HGDH)

Lacticacidemia due to PDX1 deficiency (PDHX)

Lipodystrophy congenital generalized type 1 (AGPAT2)

Lipodystrophy congenital generalized type 2 (BSCL2)

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (HADHA)

Mannose-binding protein deficiency (MBL2)

B Mannosidosis-alpha (MAN2B1)

B Mannosidosis-beta (MANBA)

Maple sirup urine disease type II (DBT)

Maple sirup urine disease type III (DLD)

Maple syrup urine disease type 1a (BCKDHA)Maple syrup urine disease type 1b (BCKDHB)Maturity-onset diabetes of the young type 1 (HNF4A)

Maturity-onset diabetes of the young type 10 (INS)

Maturity-onset diabetes of the young type 2 (GCK)

Maturity-onset diabetes of the young type 3 (HNF1A)

Maturity-onset diabetes of the young type 4 (PDX1)Maturity-onset diabetes of the young type 5 (HNF1B)

Mediterranean fever familial (MEFV)

B Metachromatic Leukodystrophy (ARSA)

B Methylacetoacetic aciduria (ACAT1)

B

B

B

B

B

B

B

B

B

B

B

B

B

B

B

B

B Methylcobalamin deficiency CblG type (MTR)

B

B

B

B

Methylmalonic aciduria and homocystinuria cb1F type (LMBRD1)

B Methylmalonic aciduria and homocystinuria cbID type (C2ORF25)

B Methylmalonic aciduria cbIA type (MMAA)

B Methylmalonic aciduria cbIC type (MMACHC)

Glycogen storage disease type IB (SLC37A4)Glycogen storage disease type IC (SLC37A4)

Glycogen storage disease type II (GAA)

Glycogen storage disease type IX (PHKA2)

Glycogen storage disease type IXb (PHKB) Glycogen storage disease type V (PYGM) Glycogen storage disease type VIB (PYGL)

Glycogen storage disease type VII (PFKM)

Glycogen storage disease type XI (LDHA)

Glycogen storage disease type XIII (ENO3)

Glycogen storage disease X (PGAM2)

Glycogen storage disease XIV (PGM1)

Glycosylation disorder type 1A (PMM2)Glycosylation disorder type 1B (MPI)

Glycosylation disorder type 1C (ALG6)

Glycosylation disorder type 1D (ALG3) Glycosylation disorder type 1E (DPM1)

Glycosylation disorder type 1F (MPDU1)

Glycosylation disorder type 1G (ALG12)

Glycosylation disorder type 1H (ALG8) Glycosylation disorder type 1I (ALG2)

Glycosylation disorder type 1J (DPAGT2)

Glycosylation disorder type 1K (ALG1)

Glycosylation disorder type 1L (ALG9)

Glycosylation disorder type 1M (DOLK) Glycosylation disorder type 1N (RFT1)

Glycosylation disorder type 2A (MGAT2)

Glycosylation disorder type 2C (SLC35C1) Glycosylation disorder type 2D (B4GALT1)

Glycosylation disorder type 2E (COG7)

Glycosylation disorder type 2F (SLC35A1)

Glycosylation disorder type 2G (COG1) Glycosylation disorder type 2H (COG8)

Glycosylation disorder, congenital type IIk (TMEM165) Methylmalonic aciduria cblB complementation type vitamin B12-responsive

B Glycosylation disorder, congenital type Ir (DDOST)

B GM1-gangliosidosis type I (GLB1)

GM1-gangliosidosis type II (GLB1)

GM2-gangliosidosis type II (HEXB)

B Guanidinoacetate methyltransferase deficiency (GAMT)

B Hartnup disorder (SLC6A19)

(MMAB)Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MUT)

Molybdenum cofactor deficiency type A (MOCS1)

Molybdenum cofactor deficiency type B (MOCS2)

B

B

B

B

B

B

B

B

B

B

B

Hemochromatosis classical (HFE)

Hemochromatosis type 2A (HJV)

Hemochromatosis type 2B (HAMP)

Hemochromatosis type 3 (TFR2)

Hemochromatosis type 4 (SLC40A1)

Hurler syndrome (IDUA)

Hurler-Scheie syndrome (IDUA)

Hypercholesterolemia 3 AD (PCSK9)

Hypercholesterolemia AR (LDLRAP1)

Hypercholesterolemia due to LDL-receptor-disorder AD (LDLR)

Hypercholesterolemia type B AD (APOB)

Hyperinsulinemic hypoglycemia familial 1 (ABCC8)

Hyperinsulinemic hypoglycemia familial 2 (KCNJ11)

Hyperinsulinemic hypoglycemia familial 3 (GCK)

Hyperinsulinemic hypoglycemia familial 6 (GLUD1)

Hyperlipoproteinemia type I (LPL)

Mucolipidosis II (GNPTAB)

Mucolipidosis III (GNPTAB)

Mucolipidosis IV (MCOLN1)

Mucopolysaccharidosis type II (IDS) Mucopolysaccharidosis type IIIA (SGSH)

Mucopolysaccharidosis type IIIB (NAGLU)

Mucopolysaccharidosis type IIIC (HGSNAT)

Mucopolysaccharidosis type IIID (GNS)

Mucopolysaccharidosis type IVA (GALNS)

Mucopolysaccharidosis type IVB (GLB1)

Mucopolysaccharidosis type IX (HYAL1) Mucopolysaccharidosis type VI (ARSB)

Mucopolysaccharidosis type VII (GUSB) Muscle glycogenosis (PHKA1)

Myoadenylate deaminase deficiency (AMPD1)

N-acetylglutamate synthase deficiency (NAGS)

Neuraminidase deficiency (NEU1)

Niemann-Pick disease type A/B (SMPD1)

Niemann-Pick disease type C1 (NPC1)




5

1 - Metabolic Diseases (continued)Pyruvate dehydrogenase E1-beta deficiency (PDHB)

Pyruvate dehydrogenase E2 deficiency (DLAT)

Pyruvate dehydrogenase phosphatase deficiency (PDP1)

Niemann-Pick disease type C2 (NPC2)

Ornithine transcarbamoylase deficiency (OTC)

Orotic aciduria (UMPS)

Pancreatitis (PRSS1)

Pancreatitis (SPINK1)

Pancreatitis (CFTR)

Pancreatitis (CTRC)

Pyruvate kinase deficiency with hemolytic anemia (PKLR)Refsum Disease (PHYH)

Refsum disease (PEX7)

Riboflavinresponsive multiple acyl-CoA dehydrogenase deficiency (ETFDH)Pentosuria (DCXR)

Periodic fever, familial autosomal dominant (TNFRSF1A)

B Schindler disease (NAGA)

B Sulfatase deficiency (SUMF1)

B Tay-Sachs disease (HEXA)

Tay-Sachs disease AB variant (GM2A)

Phosphoribosylpyrophosphate synthetase superactivity (PRPS1)

B Porphyria, acute intermittent (HMBS)

B Propionic acidemia (PCCA)

B Propionic acidemia (PCCB)

Prosaposin deficiency (PSAP)Pyruvate carboxylase deficiency (PC)

Pyruvate dehydrogenase E1-alpha deficiency (PDHA1)

Transcobalamin II deficiency (TCN2)

Trifunctional protein deficiency (HADHA)

Tyrosinemia type I (FAH)Wilson disease (ATP7B)

Wolman Disease (LIPA)

2 - Neurological DiseasesSPG50 (AP4M1) Ataxia telangiectasia like disorder (MRE11A)

Cataracts facial dysmorphism and neuropathy (CTDP1)

2.1 - Hereditary Spastic Paraplegias (SPG)SPG50 (AP4M1)

2.1.1 - Spastic Paraplegia (SPG), Autosomal DominantSPG3A (ATL1)

SPG4 (SPAST)

SPG42 (SLC33A1) SPG6 (NIPA1)

SPG8 (KIAA0196)

SPG10 (KIF5A)

SPG12 (RTN2)

SPG13 (HSPD1) SPG17 (BSCL2)

SPG31 (REEP1)

SPG33 (ZFYVE27)

2.1.2 - Spastic Paraplegia (SPG), Autosomal RecessiveSPG39 (PNPLA6)

SPG44 (GJC2)

SPG11 (SPG11)

SPG15 (ZFYVE26)

SPG20 (SPG20)

SPG21 (SPG21)

SPG50 (AP4M1) SPG5A (CYP7B1)SPG7 (SPG7) SPG30 (KIF1A)

SPG35 (FA2H)

2.1.3 - Spastic Paraplegia (SPG), X-linkedSPG1 (L1CAM) SPG2 (PLP1)

2.1.4 - Other Spastic Paraplegia (SPG) FormsLeukodystrophy, dysmyelination and spastic paraparesis, with or withoutdystonia, SPG35 (FA2H)



6

2.2 - Hereditary Polyneuropathies (HMSN)Ataxia telangiectasia like disorder (MRE11A) Cataracts facial dysmorphism and neuropathy (CTDP1)

2.2.1 - CMT1CMT1A (PMP22)

CMT1B (MPZ)

CMT1C (LITAF)

CMT1D (EGR2)

CMT1F (NEFL)

Neuropathy with liability to pressure palsies [HNPP] (PMP22)

2.2.2 - CMT2CMT2D (GARS)CMT2E (NEFL)

CMT2F (HSPB1)CMT2I (MPZ)

CMT2J (MPZ) CMT2K (GDAP1)

CMT2L (HSPB8)

CMT2, unclassified (AARS)

CMT20 (DYNC1H1)

CMT2A1 (KIF1B)

CMT2A2 (MFN2)

CMT2B (RAB7A)CMT2B1 (LMNA)

CMT2B2 (MED25)

CMT2C (TRPV4)

2.2.3 - Dejerine-Sottas-SyndromeDejerine-Sottas Syndrome [DSS] (MPZ,PMP22,PRX,EGR2,GJB1)

2.2.4 - CMT4CMT4E (EGR2)

CMT4E (MPZ)

CMT4F (PRX)

CMT4H (FGD4)

CMT4J (FIG4)

CMT4A (GDAP1)

CMT4B1 (MTMR2)

CMT4B2 (SBF2)

CMT4C (SH3TC2)

CMT4C1 (LMNA)

CMT4D (NDRG1)

2.2.5 - Autonomic Neuropathies46,XY gonadal dysgenesis, partial, with minifascicular neuropathy (DHH)

HSAN1 (SPTLC1)

HSAN2A (WNK1)

HSAN2B (FAM134B)

HSAN3 (IKBKAP)

HSAN4 (NTRK1)

HSAN5 (NGFB)HSN2C (KIF1A)

2.2.6 - Pure Motor NeuropathiesMuscular atrophy distal spinal AR type 4 (PLEKHG5)

Neuronopathy distal hereditary motor type IIA (HSPB8)

Neuronopathy distal hereditary motor type IIB (HSPB1)

Neuronopathy distal hereditary motor type V (GARS)

Neuronopathy distal hereditary motor type VI (IGHMBP2)

Neuronopathy distal hereditary motor type VIIB (DCTN1)

Neuronopathy X-linked distal hereditary motor (ATP7A)Neuropathy distal motor, autosomal recessive (DNAJB2)

2.2.8 - OthersAgenesis of the corpus callosum with peripheral neuropathy (SLC12A6)

Amyloidosis (TTR)

Amyotrophy hereditary neuralgic (SEPT9)

Ataxia telangiectasia like disorder (MRE11A)

Cataracts facial dysmorphism and neuropathy (CTDP1)

Cataracts facial dysmorphism and neuropathy (CTDP1) CMTX1 (GJB1)

CMTX5 (PRPS1)

DI-CMTB (DNM2)

DI-CMTC (YARS)

DI-CMTD (MPZ)

Giant axonal neuropathy (GAN)

Neuropathy, hereditary sensory, type IE (DNMT1)

Peripheral demyelinating neuropathy Waardenburg syndrome andHirschsprung disease (SOX10)




7

2.2.8 - Others (continued)Sensory ataxic neuropathy dysarthria and PROGRESSIVE EXTERNALOPHTHALMOPLEGIA (C10ORF2)

Sensory ataxic neuropathy dysarthria, and ophthalmoparesis (POLG)

Slowed nerve conduction velocity AD (ARHGEF10)

Spinocerebellar ataxia AR with axonal neuropathy (TDP1)

2.4 - Non-Ataxic Movement Disorders

2.4.1 - DystoniaDYT18 - dystonia 18 (SLC2A1)

DYT3 - dystonia, X-linked (TAF1)

DYT5A - DOPA-responsive dystonia (GCH1)

DYT5A - DOPA-responsive dystonia (TH)

DYT6 - dystonia, primary (THAP1)

DYT8 - dystonia 8 (MR1)

Focal dystonia (GNAL)

Cervical dystonia (CIZ1)

Chorea, heriditary benign (NKX2-1)

Dystonia juvenile-onset (ACTB)

Dystonia, DOPA-responsive, AR (SPR)

DYT1 - dystonia type 1 (TOR1A)

DYT10 - Paroxysmal Kinesigenic Dyskinesia (PRRT2)

DYT11 - myoclonus-dystonia (SGCE)

DYT12 dystonia parkinsonism (ATP1A3)

DYT16 - dystonia 16 (PRKRA)

Focal dystonia (ANO3)

Mirror movements, familial congenital (RAD51)

2.4.2 - ParkinsonismPARK6 Parkinsonism (PINK1)

PARK7 Parkinsonism (PARK7)

PARK8 Parkinsonism (LRRK2)

PARK9 Parkinsonism (ATP13A2)

Parkinsonism-Dystonia, infantile (SLC6A3)

PARK 17, Parkinson disease, late onset (VPS35)

PARK1 Parkinsonism (SNCA)

PARK13 Parkinsonism (HTRA2)

PARK14 Parkinsonism (PLA2G6)

PARK15 Parkinsonism (FBXO7)

PARK2 Parkinsonism (PARK2)

2.5 - Ataxias and Trinucleotide Expansion Diseases

2.5.1 - Ataxias and Trinucleotide Expansion DiseasesKennedy disease (AR)Myotonic dystrophy type 1 (DMPK)Myotonic dystrophy type 2 (ZNF9)

Neuropathy, hereditary sensory, type IE (DNMT1)

Spastic ataxia Charlevoix-Saguenay type (SACS)

Spinocerebellar ataxia AR with axonal neuropathy (TDP1)

Spinocerebellar ataxia infantile-onset (C10ORF2)

Spinocerebellar ataxia type 1 (ATXN1)

Ataxia oculomotor apraxia PIK3R5 related (PIK3R5)Ataxia-oculomotor apraxia type 1 (APTX)

Ataxia-oculomotor apraxia type 2 (SETX)

Ataxia-telangiectasia (ATM)

Cerebellar ataxia, autosomal recessive type 1 (SYNE1)

Coenzyme Q10 deficiency type 1 (COQ2)

Coenzyme Q10 deficiency type 2 (PDSS1)

Coenzyme Q10 deficiency type 3 (PDSS2)

COENZYME Q10 DEFICIENCY type 4 (ADCK3)

Coenzyme Q10 deficiency type 5 (COQ9)

Spinocerebellar ataxia type 10 (ATXN10)

Spinocerebellar ataxia type 11 (TTBK2)

Spinocerebellar ataxia type 12 (PPP2R2B)

Spinocerebellar ataxia type 13 (KCNC3)Spinocerebellar ataxia type 14 (PRKCG)

Spinocerebellar ataxia type 15 (ITPR1)

Spinocerebellar ataxia type 18 (IFRD1)

Dentatorubral-pallidoluysian atrophy (ATN1)

Episodic ataxia type 1 (KCNA1)

Episodic ataxia type 2 (CACNA1A)

Episodic ataxia type 5 (CACNB4)

Episodic ataxia type 6 (SLC1A3)

Familial hemiplegic migraine type 2 (ATP1A2)

Familial hemiplegic migraine type 3 (SCN1A)

Familial hemiplegic migraine type1 (CACNA1A)

Fragile X syndrome (FMR1)

Spinocerebellar ataxia type 2 (ATXN2)Spinocerebellar ataxia type 23 (PDYN)

Spinocerebellar ataxia type 27 (FGF14)

Spinocerebellar ataxia type 28 (AFG3L2)

Friedreich ataxia (FXN)

Huntington disease (HTT) Huntington disease-like type 1 (PRNP)

Spinocerebellar ataxia type 3 (ATXN3) Spinocerebellar ataxia type 31 (BEAN) Spinocerebellar ataxia type 5 (SPTBN2)

Spinocerebellar ataxia type 6 (CACNA1A) Huntington disease-like type 2 (JPH3)Huntington disease-like type 4 (TBP)




8

2.5.1 - Ataxias and Trinucleotide Expansion Diseases (continued)Vitamin E familial isolated deficiency of (TTPA) Spinocerebellar ataxia type 8 (ATXN8OS)

Spinocerebellar ataxia, autosomal recessive type 9 (CABC1)

2.6 - Leukodystrophies and Other Brain Diseases"Microcephaly 2, primary, autosomal recessive, with or without cortical Hydrocephalus with aqueductal stenosis and congenital intestinal

B

malformations" (604317)

Acrocallosal syndrome (KIF7)

Acyl-CoA peroxisomal oxidase deficiency (ACOX1)

Adrenoleukodystrophy (ABCD1)

Aicardi-Goutieres syndrome type 1 (TREX1)

Aicardi-Goutieres syndrome type 2 (RNASEH2B)

Aicardi-Goutieres syndrome type 3 (RNASEH2C)

Aicardi-Goutieres syndrome type 4 (RNASEH2A)

Aicardi-Goutieres syndrome type 5 (SAMHD1)

Alexander disease (GFAP)

Allan-Herndon-Dudley syndrome (SLC16A2)

Asperger syndrome susceptibility X-linked type I (NLGN3)

Autism susceptibility X-linked type I (NLGN3)

Autism susceptibility X-linked type II (NLGN4X)

Autosomal-dominant striatal degeneration (PDE8B)

Budd-Chiari syndrome (F5)

Budd-Chiari syndrome (JAK2)

Canavan disease (ASPA)

Central hypoventilation syndrome, congenital (ASCL1)

Central hypoventilation syndrome, congenital, with or without Hirschsprung

pseudoobstraction (L1CAM)Insensitivity to pain, channelopathy-associated (SCN9A)

Joubert syndrome type 1 (INPP5E)

Joubert syndrome type 10 (OFD1)

Joubert syndrome type 15 (CEP41)

Joubert syndrome type 16 (TMEM138)

Joubert syndrome type 17 (C5orf42)

Joubert syndrome type 19 (ZNF423)


Joubert syndrome type 3 (AHI1)

Joubert syndrome type 4 (NPHP1)

Joubert syndrome type 5 (CEP290)


Joubert syndrome type 7 (RPGRIP1L)

Joubert syndrome type 8 (ARL13B)

Joubert syndrome type 9 (CC2D2A)

Joubert syndrome, EXOC8 related (EXOC8 )

Joubert syndrome, EXOC8 related (EXOSC8 )

Krabbe disease (GALC)

Leigh syndrome (MT-ND3)disease (PHOX2B)

Cerebellar hypoplasia and mental retardation with or without quadrupedal Leigh syndrome (BCS1L)

locomotion 1 (VLDLR)

Cerebrotendinous xanthomatosis (CYP27A1)

COACH syndrome (TMEM67)

COACH syndrome (CC2D2A)COACH syndrome (RPGRIP1L)

Cohen syndrome (VPS13B)

Corpus callosum agenesis of with mental retardation ocular coloboma and

Leigh syndrome (C8ORF38)

Leigh syndrome (COX15)

Leigh syndrome (FOXRED1)

Leigh syndrome (NDUFA10)


Leigh syndrome (NDUFAF2)

Leigh syndrome (NDUFS4)Leigh syndrome (NDUFS3)

Leigh syndrome (NDUFS7) Leigh syndrome (NDUFS8)

B

B

B

B

B

B

B

B

B

B

micrognathia (IGBP1)

Encephalopathy acute necrotizing 1 (RANBP2)

Encephalopathy neonatal severe (MECP2)

Ethylmalonic encephalopathy (ETHE1)

Fucosidosis (FUCA1)

Giant axonal neuropathy (GAN)

Glycine encephalopathy (GCSH)

Glycosylation disorder type 1C (ALG6)

Glycosylation disorder type 1E (DPM1)

Glycosylation disorder type 1J (DPAGT1)

Glycosylation disorder type 1M (DOLK)

Glycosylation disorder type 2A (MGAT2) Glycosylation disorder type 2C (SLC35C1)

Glycosylation disorder type 2D (B4GALT1)

Glycosylation disorder type 2E (COG7) Glycosylation disorder type 2F (SLC35A1)

Glycosylation disorder type 2G (COG1)

Glycosylation disorder type 2H (COG8)

GM1-gangliosidosis type I (GLB1)Griscelli syndrome type 2 (RAB27A)

Leigh syndrome (NUBPL)Leigh syndrome (NDUFAF1)

Leigh syndrome (NDUFAF3)


Leigh syndrome and mitochondrial encephalopathy (ACAD9)

Leigh syndrome due to pyruvate carboxylase deficiency (PC)

Leigh syndrome due to the mitochondrial complex IV deficiency (TACO1)

Leigh syndrome, due to COX deficiency (SURF1)

Leigh syndrome, French-Canadian type (LRPPRC)

Leukodystrophy demyelinating adult-onset autosomal dominant (LMNB1)

Leukodystrophy hypomyelinating (GJC2)

Leukodystrophy hypomyelinating, type 3 (AIMP1)

Leukodystrophy hypomyelinating, type 7 (POLR3A)

Leukodystrophy hypomyelinating, type 8 (POLR3B)

Leukoencephalopathy with brainstem and spinal cord involvement and lactateelevation (DARS2)

Hydranencephaly with abnormal genitalia/Lissencephaly X-linked 2 (ARX)




9

2.6 - Leukodystrophies and Other Brain Diseases (continued)Leukoencephalopathy with vanishing white matter (EIF2B1)

Leukoencephalopathy with vanishing white matter (EIF2B2)




Leukoencephalopathy, cystic, without megalencephaly (RNASET2)

Leukoencephalopathy, diffuse hereditary, with spheroids (CSF1R)

Lissencephaly type 4 with microcephaly (NDE1)

Megalencephalic leukoencephalopathy with subcortical cysts (MLC1)

Megalencephalic leukoencephalopathy with subcortical cysts 2A (HEPACAM)

Mental retardation with language impairment and autistic features (FOXP1)

MERRF, 1. level m.8363G>A only (MTTK)

MERRF, 2. level m8356, m8363, m8361 in MTTK; m611, m15967 in MTTP (MTTP)

MERRF, 2. level m8356,, m8363, m8361 in MTTK; m611, m15967 in MTTP (MTTK,MTTP)

Metachromatic leukodystrophy, due to Saposin B deficiency * (PSAP)

Microcephaly Amish type (SLC25A19)

Microcephaly CEP63 related (CEP63)

Microcephaly MRE11A related (MRE11A)Microcephaly, epilepsy, and diabetes syndrome (IER3IP1)

Microcephaly, primary autosomal recessive type 7 (STIL)

Microcephaly, primary autosomal recessive type 8 (CEP135)

Mitochondrial DNA depletion syndrome (TK2)

Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) (SUCLG1) R

Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy (POLG)Niemann-Pick disease type C1 (NPC1)

Pantothenate kinase-associated neurodegeneration (PANK2)

Parietal Foramina type 2 (ALX4)

Paroxysmal extreme pain disorder (SCN9A)

Pelizaeus-Merzbacher disease (PLP1)

Pelizaeus-Merzbacher disease (SLC16A2)

Periventricular heterotopia with microcephaly (ARFGEF2)Peroxisome biogenesis disorder, PEX11 related (PEX11A) Perrault syndrome (HSD17B4)

Phosphoglycerate dehydrogenase deficiency (PHGDH)

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (TYROBP)

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (TREM2)

Pontocerebellar hypoplasia type 1A (VRK1)

Pontocerebellar hypoplasia type 1B (EXOSC3)

Progressive external ophthalmoplegia with mitochondrial deletions 1 (POLG)

Progressive external ophthalmoplegia with mitochondrial deletions type 4 (POLG2)

Progressive external ophthalmoplegia with mitochondrial deletions type 5 (RRM2B)

Progressive external ophthalmoplegia with mitochondrial deletions, AR (POLG)

Microcephaly, primary, autosomal recessive type 4 (CEP152) Sensory ataxic neuropathy dysarthria and PROGRESSIVE EXTERNAL

Microcephaly, primary, autosomal recessive type 5 (ASPM)Microcephaly, primary, autosomal recessive type I (MCPH1)

Microcephaly, with symplified gyral pattern and insulin-dependant diabetes

OPHTHALMOPLEGIA (C10ORF2)

Sialuria, Finish type (SLC17A5)

Sjogren-Larsson syndrome (ALDH3A2)

Thiamine metabolism dysfunction syndrome 2 (SLC19A3)

Tourette syndrome (SLITRK1)

Tuberous sclerosis (TSC1)

Tuberous sclerosis (TSC2)

Waardenburg syndrome/Hirschsprung disease (EDNRB)

Warburg micro syndrome type 1 (RAB3GAP1)

Zellweger syndrome (PEX1)Zellweger syndrome (PEX2)

Zellweger syndrome (PEX3)

(GFM2)Mitochondrial complex I deficiency (NDUFAF4)Mitochondrial complex I deficiency (NDUFS1)

Mitochondrial complex I deficiency (NDUFS2)

Mitochondrial complex I deficiency (FOXRED1)Mitochondrial complex I deficiency (NDUFA11)

Mitochondrial complex I deficiency (NDUFV1)

Mitochondrial complex I deficiency (NDUFV2)

Mitochondrial complex I deficiency (NDUFS4)

Mitochondrial complex I deficiency (NDUFS6)Mitochondrial complex II deficiency (SDHAF1) Mitochondrial complex III deficiency (TTC19)

Zellweger syndrome (PEX5)Zellweger syndrome (PEX6)

Zellweger syndrome (PEX10)Zellweger syndrome (PEX12)Zellweger syndrome (PEX13)Zellweger syndrome (PEX14)Zellweger syndrome (PEX16)Zellweger syndrome (PEX19)Zellweger syndrome (PEX26)

Mitochondrial complex III deficiency (BCS1L)

Mitochondrial complex IV deficiency (FASTKD2)

Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 (ATPAF2 )

Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 (TMEM70)

Mitochondrial DNA depletion syndrome (SUCLA2)

Mitochondrial DNA depletion syndrome (RRM2B)

Mitochondrial DNA depletion syndrome (C10ORF2)



10

2.7 - Muscular Disorders and Hereditary ALS-FormsAlpha-B-Crystallinopathy (CRYAB)

Amyotrophic lateral sclerosis type 1 (SOD1)

Amyotrophic lateral sclerosis type 10 (TARDBP)

Amyotrophic lateral sclerosis type 11 (FIG4)

Amyotrophic lateral sclerosis type 12 (OPTN)

Amyotrophic lateral sclerosis type 2 (ALS2)Amyotrophic lateral sclerosis type 4 (SETX)Amyotrophic lateral sclerosis type 8 (VAPB)

Amyotrophic lateral sclerosis type 9 (ANG)

Amyotrophic lateral sclerosis with frontotemporal dementia (C9orf72)

Limb-girdle muscular dystrophy, AR type 2K (POMT1)

Limb-girdle muscular dystrophy, AR type 2L (ANO5)

Limb-girdle muscular dystrophy, AR type 2M (FKTN)

Limb-girdle muscular dystrophy, AR type 2N (POMT1)

Malignant hyperthermia (RYR1)Minicore myopathy with external ophthalmoplegia (RYR1)


Mitochondrial DNA depletion syndrome (DGUOK)

Mitochondrial DNA depletion syndrome (TK2)

Miyoshi myopathy (DYSF)

Muscle hypertrophy (MSTN)

Muscular dystrophy type 1A (LAMA2)

Muscular dystrophy type 1C (FKRP)

Muscular dystrophy type 1D (LARGE)

Muscular dystrophy, Becker type (DMD)

Muscular dystrophy, Duchenne type (DMD)

Amyotrophic lateral sclerosis, x-linked juvenile and adult-onset ALS (UBQLN2)

Bethlem myopathy (COL6A1)



Brody myopathy (ATP2A1)

Central core disease of muscle (RYR1)

Centronuclear myopathy 1 (MTMR14)

Centronuclear myopathy 3 (MYF6)

Cerebellar ataxia, autosomal recessive type 1 (SYNE1)

Compton-North congenital myopathy (CNTN1)

Creatine phosphokinase, elevated serum (CAV3)

Dyssegmental dysplasia, Silverman-Handmaker type (HSPG2)

Emery-Dreifuss muscular dystrophy type 1 (EMD)

Emery-Dreifuss muscular dystrophy type 2 (LMNA)

Emery-Dreifuss muscular dystrophy type 5 (SYNE2)

Emery-Dreifuss muscular dystrophy type 6, X-linked (FHL1)

Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission

Muscular dystrophy, oculopharyngeal (PABPN1)

Myasthenic syndrome due to mutation in SCN4A (SCN4A)

Myasthenic syndrome, congenital (CHRNE)

Myasthenic syndrome, congenital (CHAT)

Myasthenic syndrome, congenital (CHRNB1)

Myopathy due to Integrin 7A deficiency (ITGA7)

Myopathy rhabdomyolysis (CPT1B )

Myopathy rhabdomyolysis (ACADL)

Myopathy with fiber-type disproportion (ACTA1)

Myopathy with fiber-type disproportion (SEPN1)

Myopathy, centronuclear (DNM2)

(DNM1L)

Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy Myopathy, centronuclear (BIN1)

due to cytochrome c oxidase deficiency (COX10)

B

Endplate acetylcholinesterase deficiency (COLQ)

Epidermolysis bullosa simplex (PLEC)

Epidermolysis bullosa simplex, autosomal recessive (DST )

Fibrodysplasia ossificans progressiva (ACVR1)

Filaminopathy (FLNC)

Fukuyama congenital muscular dystrophy (FKTN)

Glycogen storage disease type II (GAA)

Hereditary myopathy with early respiratory failure (TTN)

Myopathy, distal type 1 (MYH7)

Myopathy, distal type 2 (MATR3)

Myopathy, distal type 4 (FLNC)

Myopathy, distal, with anterior tibial onset (DYSF)

Myopathy, distal, with decreased Caveolin 3 (CAV3)

Myopathy, early-onset, with fatal cardiomyopathy (TTN)

Myopathy, limb-girdle, with bone fragility (MTAP)

Myopathy, mitochondrial progressive, with congenital cataract, hearing loss,and developmental delay (GFER)

Myopathy, myofibrillar 6 (BAG3)

Myopathy, myofibrillar, Desmin-related (DES)

Myopathy, myofibrillar, ZASP-related (LDB3)

Myosclerosis, AR (COL6A2)

Myosin storage myopathy (MYH7)

Myotilinopathy (MYOT)

Myotonia congenita (CLCN1)

Myotonic dystrophy type 1 (DMPK)

Hyperkalemic periodic paralysis (SCN4A)

Hypokalemic periodic paralysis type 1 (CACNA1S)

Hypokalemic periodic paralysis type 2 (SCN4A)

Inclusion body myopathy (GNE)

Limb-girdle muscular dystrophy, AD type 1A (MYOT)

Limb-girdle muscular dystrophy, AD type 1B (LMNA)Limb-girdle muscular dystrophy, AD type 1C (CAV3)

Limb-girdle muscular dystrophy, AD type 1E (DNAJB6)

Limb-girdle muscular dystrophy, AR type 2A (CAPN3)

Limb-girdle muscular dystrophy, AR type 2B (DYSF)Limb-girdle muscular dystrophy, AR type 2C (SGCG)

Limb-girdle muscular dystrophy, AR type 2D (SGCA)

Limb-girdle muscular dystrophy, AR type 2E (SGCB)

Limb-girdle muscular dystrophy, AR type 2F (SGCD)

Limb-girdle muscular dystrophy, AR Type 2G (TCAP) Limb-girdle muscular dystrophy, AR type 2H (TRIM32)

Limb-girdle muscular dystrophy, AR type 2I (FKRP) Limb-girdle muscular dystrophy, AR Type 2J (TTN)

Myotonic dystrophy type 2 (ZNF9)

Myotubular myopathy (MTM1)

Nemaline myopathy type 1 (TPM3)

Nemaline myopathy type 3 (ACTA1)

Nemaline Myopathy type 4 (TPM2)

Nemaline myopathy type 5 (TNNT1)

Nemaline myopathy type 6 (KBTBD13)

Nemaline myopathy type 7 (CFL2)

Neurogenic scapuloperoneal syndrome, Kaeser type (DES)

Neuronopathy X-linked distal hereditary motor (ATP7A)




11

2.7 - Muscular Disorders and Hereditary ALS-Forms (continued)Neutral lipid storage disease with myopathy (PNPLA2)

Nonaka myopathy (GNE)

Paramyotonia congenita of von Eulenburg (SCN4A)

Pontocerebellar hypoplasia, type 6 (RARS2)

Potassium-aggravated myotonia (SCN4A)

Rigid spine muscular dystrophy (SEPN1)

Rippling muscle disease (CAV3)

Scapuloperoneal myopathy, MYH7 related (MYH7)

Schwartz-Jampel syndrome (HSPG2)

Spheroid body myopathy (TTID)

Spinal muscular atrophy, lower extremity, autosomal dominant (DYNC1H1)

Spinal muscular atrophy, type I, II, III, IV (SMN1)

Tibial muscular dystrophy, tardive (LDB3)

Tibial muscular dystrophy, tardive (TTN)

Ullrich congenital muscular dystrophy (COL6A1)



Walker-Warburg syndrome (FKRP)

Walker-Warburg syndrome (FKTN)

Walker-Warburg syndrome (LARGE)

Walker-Warburg syndrome (ISPD)

Walker-Warburg syndrome (POMT2)

2.8 - DementiasAlzheimer disease type 1 (APP)

Alzheimer disease type 3 (PSEN1)

Alzheimer disease type 4 (PSEN2)

Alzheimers disease, early onset, autosomal dominant (SORL1)

Angelman syndrome (UBE3A)

Creutzfeldt-Jakob disease (PRNP)

Dementia, frontotemporal (GRN)

Dementia, frontotemporal (MAPT)Dementia, frontotemporal (TARDBP) Fatal familial imsomnia (PRNP)

Gerstmann-Straussler Disease (PRNP)

Menkes Disease (ATP7A)

2.9 - EpilepsiesEpilepsy, childhood absence, susceptibility to type 4 (GABRA1)

Epilepsy, childhood absence, susceptibility to type 5 (GABRB3)

Epilepsy, childhood absence, susceptibility to type 6 (CACNA1H) Epilepsy, familial temporal lobe, 5 (CPA6)

Epilepsy, idiopathic generalized, susceptibility to type 10 (GABRD)

Epilepsy, idiopathic generalized, susceptibility to type 11 (CLCN2) Epilepsy, juvenile absence, susceptibility to type 1 (EFHC1)

Epilepsy, nocturnal frontal lobe type 3 (CHRNB2)

Epilepsy, nocturnal frontal lobe type 4 (CHRNA2)

Epileptic encephalopathy, early infantile type 8 (ARHGEF9)

Familial infantile myoclonic epilepsy (TBC1D24)

Generalized epilepsy and paroxysmal dyskinesia (KCNMA1)Generalized epilepsy with febrile seizures plus type 1 (SCN1B)

Generalized epilepsy with febrile seizures plus type 2 (SCN1A)Generalized epilepsy with febrile seizures plus type 3 (GABRG2)

Generalized epilepsy with febrile seizures plus type 5 (GABRD)

B

Amish infantile epilepsy syndrome (ST3GAL5)

Autosomal dominant lateral temporal lobe epilepsy (LGI1)

Autosomal dominant nocturnal frontal lobe epilepsy type 1 (CHRNA4)

Autosomal dominant nocturnal frontal lobe epilepsy type 4 (CHRNA2)

Benign familial neonatal seizures (KCNQ2)

Convulsions, benign familial infantile, 3 (SCN2A)

Cortical dysplasia-focal epilepsy syndrome (CNTNAP2)

Dravet syndrome (SCN1A)

Dravet syndrome (GABRG2)

Dravet syndrome (SCN2A)

Dravet Syndrome (SCN9A)

DYT18 - dystonia 18 (SLC2A1)

Early infantile epileptic encephalopathy type 1 (ARX)

Early infantile epileptic encephalopathy type 10 (PNKP)

Early infantile epileptic encephalopathy type 11 (SCN2A)

Early infantile epileptic encephalopathy type 12 (PLCB1)

Early infantile epileptic encephalopathy type 13 (SCN8A)

Early infantile epileptic encephalopathy type 2 (CDKL5)

Early infantile epileptic encephalopathy type 3 (SLC25A22)

Early infantile epileptic encephalopathy type 4 (STXBP1)

Early infantile epileptic encephalopathy type 5 (SPTAN1)

Early infantile epileptic encephalopathy type 7 (KCNQ2)

Early infantile epileptic encephalopathy type 9 (PCDH19)

Epilepsy pyridoxine-dependent (ALDH7A1)Epilepsy, benign neonatal (KCNQ3)

Epilepsy, childhood absence, JRK related (JRK)

Epilepsy, childhood absence, susceptibility to type 2 (GABRG2)

Generalized epilepsy with febrile seizures plus type 7 (SCN9A) Hyperekplexia, hereditary (GLRA1)

Hyperekplexia, hereditary (GLRB)

Hyperekplexia, hereditary (SLC6A5)

Kohlschutter Tonz syndrome (ROGDI)

Myoclonic epilepsy of lafora (EPM2A)

Myoclonic epilepsy of lafora (NHLRC1)

Progressive myoclonus epilepsy (PRICKLE1)

Progressive myoclonus epilepsy-3 (KCTD7)

SESAME syndrome (KCNJ10)

Unverricht-Lundborg disease (CSTB)

2.10 - Mitochondrial DisordersMitochondrial neurogastrointestinal encephalopathy syndrome withoutleukoencephalopathy (TYMP)

Progressive external ophthalmoplegia with mitochondrial deletions type 2 (SLC25A4)

Mitochondrial complex I deficiency (NDUFB3)


Mitochondrial DNA depletion syndrome 6 hepatocerebral type (MPV17) Sensory ataxic neuropathy dysarthria and PROGRESSIVE EXTERNALOPHTHALMOPLEGIA (C10ORF2)



12

2.11 - Mental RetardationAdrenoleukodystrophy (ABCD1)

Allan-Herndon-Dudley syndrome (SLC16A2)

Mental retardation, X-linked, syndromic type 14 (UPF3B)

Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial

Alpha-Thalassemia Myelodysplasia Syndrome, somatic (ATRX)

Angelman syndrome-like (CDKL5)

Angelman-like syndrome (MECP2)

Arts syndrome (PRPS1)

Asperger syndrome susceptibility, X-linked type II (NLGN4)

Autism susceptibility, X-linked type 3 (MECP2)

Autism, susceptibility to, X-linked type 5 (RPL10)

Borjeson-Forssman-Lehmann syndrome (PHF6)

Brunner syndrome (MAOA)

Cataract, congenital, X-linked (NHS)

CHILD syndrome (NSDHL)

CK syndrome (NSDHL)

Coffin-Lowry syndrome (RPS6KA3)

Cornelia de Lange sydrome 2 (SMC1A)

B Creatine deficiency syndrome X-linked (SLC6A8)

Danon disease (LAMP2)

Dent disease type 2 (OCRL)

Early infantile epileptic encephalopathy type 9 (PCDH19)

Epilepsy, X-linked, with variable learning disabilities and behavior disorders

appearance (OPHN1)

Mental retardation, X-linked, with isolated growth hormone deficiency (SOX3)

Microphtamia syndromic type 2 (BCOR)

Microphthamia syndrome type 7 (HCCS)

Mitochondrial complex I deficiency (NDUFB3)

Mitochondrial complex I deficiency (NDUFA1)

Mohr-Tranebjaerg syndrome (TIMM8A)

MR and microcephaly with pontine and cerebellar hypoplasia (CASK)

MR non-syndromic (ELK1)

MR non-syndromic (KLF8)

MR non-syndromic (NXF5)

MR non-syndromic (ZCCHC12)

MR X-linked 17/31 microduplication (HSD17B10)

MR X-linked 21/34 (IL1RAPL1)

MR X-linked syndromic 15 Cabezas type (CUL4B)

MR X-linked syndromic type 10 (HSD17B10)

MR X-linked syndromic type 16 (FGD1)

MR X-linked type 41 (GDI1)

MR X-linked type 44 (FTSJ1)

MR X-linked type 46 (ARHGEF6)

(SYN1)

Fanconi anemia, complementation group B (FANCB)

FG syndrome type 2 (FLNA)

FG syndrome type 4 (CASK)

Focal dermal hypoplasia (PORCN)

Fragile X tremor/ataxia syndrome (FMR1)

Frontometaphyseal dysplasia (FLNA)

Heterotopia, periventricular, ED variant (FLNA)

Heterotopia, periventricular, X-linked dominant (FLNA) Hoyeraal-Hreidarsson syndrome (DKC1)

Jensen syndrome (TIMM8A)

Leigh syndrome, X-linked (PDHA1)

Lesch-Nyham syndrome (HPRT1)

Lissencephaly/Subcortical laminal heteropia, X-linked (DCX)

Lowe syndrome (OCRL)

Melnick-Needles syndrome (FLNA)

Mental retardation X-linked (RAB40AL)Mental retardation, autosomal dominant 13 (DYNC1H1)

Mental retardation, autosomal dominant type 9 (KIF1A)

Mental retardation, autosomal recessive 5 (NSUN2)

Mental retardation, X-linked (NLGN4)

Mental retardation, X-linked syndromic, Christianson type (SLC9A6)

Mental retardation, X-linked syndromic, Nascimento-type (UBE2A)

Mental retardation, X-linked syndromic, Raymond type (ZDHHC9)

Mental retardation, X-linked type 19 (RPS6KA3)

Mental retardation, X-linked type 30 (PAK3)

Mental retardation, X-linked type 45 (ZNF81)

Mental retardation, X-linked type 58 (TSPAN7)Mental retardation, X-linked type 72 (RAB39B)


Mental retardation, X-linked type 91 (ZDHHC15)


Mental retardation, X-linked type 96 (SYP)


Mental retardation, X-linked, Siderius type (PHF8)

MR X-linked type 59 (AP1S2) MR X-linked type 63 (ACSL4)

MR X-linked type 88 (AGTR2)

MR X-linked type 90 (DLG3)

MR X-linked type 93 (BRWD3)

MR X-linked type 94 (GRIA3)

MR X-linked type 95 (MAGT1)

MR X-linked typev29 (ARX)

MR X-linked with epilepsy (ATP6AP2)

MR X-linked, associated with fragile site FRAXE (AFF2)

MR X-linked, nonsyndromic (KIAA2022)

MR X-Linked, syndromic type 13 (MECP2)

MR X-linked, syndromic, Claes-Jensen type (KDM5C)

MR X-linked, syndromic, Lubs type (MECP2)

MR X-linked, Turner type (HUWE1)

MR-hypotonic facies syndrome, X-linked (ATRX)

Myotubular myopathy (MTM1)

Nance-Horan syndrome (NHS)

Norrie disease (NDP)

Occipital horn syndrome (ATP7A)

Opitz G syndrome (MID1)

Opitz-Kaveggia syndrome (MED12)

Oral-facial-digital syndrome type 1 (OFD1)

Ornithine transcarbamoylase deficiency (OTC)

Partington syndrome (ARX)

Phosphoglycerate kinase 1 deficiency (PGK1)

Proud syndrome (ARX)

Renpenning syndrome (PQBP1)

Rett syndrome/preserved speech variant (MECP2)

Rolandic epilepsy, mental retardation, and speech dyspraxia (SRPX2)

Simpson-Golabi-Behmel syndrome type 1 (GPC3)

Smith-Magenis syndrome (RAI1)

SPG1 (L1CAM)

Stocco dos Santos X-linked mental retardation syndrome (SHROOM4)



13

3 - Ophthalmological DiseasesFibrosis of Extraocular Muscles, Congenital, 1 (KIF21A) Achromatopsia type 2 (CNGA3)

Achromatopsia type 3 (CNGB3)Achromatopsia type 4 (GNAT2)

Aland Island eye disease (CACNA1F)

Albinism oculocutaneous type IV (SLC45A2)

Albinism, ocular type I, Nettleship-Falls type (GPR143)

Albinism, oculocutaneous type 1A (TYR)

Albinism, oculocutaneous type 1B (TYR)

Albinism, oculocutaneous type III (TYRP1)

Alstrom syndrome (ALMS1)

Aniridia (PAX6)

Bestrophinopathy (BEST1)

Bothnia retinal dystrophy (RLBP1)

Fibrosis of extraocular muscles, congenital, 3a (TUBB3)

Fundus albipunctatus (RDH5)

Fundus albipunctatus (PRPH2)

Fundus flavimaculatus (ABCA4)

Fundus flavimaculatus (PRPH2)

Glaucoma, open angle type 1A (MYOC)

Glaucoma, open angle type 1E (OPTN)

Glaucoma, open angle type 1G (WDR36)

Glaucoma, primary type 3A (CYP1B1)

Glaucoma, primary type 3D (LTBP2)

Hermansky-Pudlak syndrome 1 (HPS1)

Hermansky-Pudlak syndrome 2 (AP3B1)

Hermansky-Pudlak syndrome 3 (HPS3)Hermansky-Pudlak syndrome 4 (HPS4) Hermansky-Pudlak syndrome 5 (HPS5)

Hermansky-Pudlak syndrome 6 (HPS6)

Hermansky-Pudlak syndrome 7 (DTNBP1)

Brittle cornea syndrome (ZNF469)

Cataract, autosomal dominant nuclear, included (GCNT2)

Cataract, autosomal recessive congenital nuclear type 2 (CRYBB3)

Cataract, autosomal recessive congenital nuclear type 3 (CRYBB1)

Cataract, autosomal recessive congenital type 1 (CRYAA)

Cataract, autosomal recessive congenital type 2 (FYCO1)

Cataract, autosomal recessive congenital type 4 (TDRD7)

Cataract, autosomal recessive congenital type 5 (AGK)

Cataract, congenital, associated with Marinesco-Sjogren Syndrome (SIL1)

Cataract, cortical pulverulent, late-onset (LIM2)

Cataract, lamellar (HSF4)

Cataract, posterior polar type 2 (CRYAB)

Cataract-microcornea syndrome (GJA8)

Choroidal dystrophy, central areolar type 2 (PRPH2)

Coat plus syndrome (CTC1)

Cone dystrophy 4 (PDE6C)

Cone-rod dystrophy (AIPL1 )

Cone-rod dystrophy (UNC119)

Cone-rod dystrophy 11 (RAX2)

Cone-rod dystrophy 13 (RPGRIP1)

Cone-rod dystrophy 15 (CDHR1)

Cone-rod dystrophy 5 (PITPNM3)

Cone-rod dystrophy 7 (RIMS1)

Cone-rod dystrophy 9 (ADAM9 )

Cone-rod dystrophy type 3 (ABCA4)

Cone-rod dystrophy, X-linked type 3 (CACNA1F)

Cone-rod retinal dystrophy-2 (CRX )

Corneal dystrophy of Bowman layer type 1 (TGFB1)

Corneal dystrophy of Bowman layer type 1 (TGFBI)

Corneal dystrophy, Avellino type (TGFB1)

Corneal dystrophy, Avellino type (TGFBI)

Corneal dystrophy, epithelial basement membrane (TGFB1)

Corneal dystrophy, epithelial basement membrane (TGFBI)

Corneal dystrophy, lattice type I (TGFB1)

Corneal dystrophy, lattice type I (TGFBI)

Hermansky-Pudlak syndrome 8 (BLOC1S3)

Iridogoniodysgenesis, type 1 (FOXC1)

Leber congenital amaurosis 11 (IMPDH1)

Leber congenital amaurosis 12 (RD3)

Leber congenital amaurosis 3 (SPATA7)

Leber congenital amaurosis 5 (LCA5)

Leber congenital amaurosis 6 (RPGRIP1)

Leber congenital amaurosis 7 (CRX )

Leber congenital amaurosis type 1 (GUCY2D)

Macular degeneration, age-related, 6 (RAX2)

Macular dystrophy, vitelliform (BEST1)

Macular dystrophy, vitelliform (PRPH2)

Mainzer Saldino syndrome (IFT140)

Megalocornea, X-linked (CHRDL1)

Melanoma cutaneous malignant type 8 (MITF)

Microphthalmia syndromic type 9 (STRA6)

Microphthalmia, isolated type 2 (VSX2)

Microphthalmia, isolated, type 3 (RAX)

Microphthalmia, isolated, with coloboma type 3 (VSX2)

Microphthalmia, syndromic type 6 (BMP4)

Microphthalmia, syndromic type 6 (SIX6)

Microphthalmia, syndromic, type 3 (SOX2)

Microphthalmia, syndromic, type 4 (OTX2)

Night blindness, congenital stationary, type 1, AD (RHO)

Night blindness, congenital stationary, type 1A, X-linked (NYX)

Night blindness, congenital stationary, type 1B, AR (GRM6)

Night blindness, congenital stationary, type 1E (GPR179)

Night blindness, congenital stationary, type 2A, X-linked (CACNA1F)

Night blindness, congenital stationary, type 2B, AR (CABP4) Night blindness, congenital stationary, type 3, AD (GNAT1)

Night blindness, congenital stationary, type2, AD (PDE6B)

Nystagmus 6, congenital, X-linked (GPR143)

Oguchi disease (SAG)

Oguchi disease (GRK1)

Optic atrophy (TMEM126A)

Optic atrophy 1 (OPA1)

Optic atrophy 3 with cataract (OPA3)

Corneal dystrophy, lattice type IIIA (TGFB1)

Corneal dystrophy, lattice type IIIA (TGFBI) Corneal endothelial dystrophy 2 (SLC4A11) Doyne honeycob retinal dystrophy (EFEMP1)

Duane Retraction syndrome (CHN1)

Duane Retraction syndrome (SALL4)

Dyschromatosis symmetrica hereditaria (ADAR)

Exudative vitreoretinopathy 2, X-linked (NDP)




14

3 - Ophthalmological Diseases (continued)Patterned dystrophy of retinal pigment epithelium (PRPH2)

Peters Anomaly (CYP1B1)

Peters-Plus syndrome (B3GALTL)

Progressive external ophthalmoplegia with mitochondrial deletions 1 (POLG)

Progressive external ophthalmoplegia with mitochondrial deletions type 4

Retinitis pigmentosa type 48, autosomal dominant (GUCA1B)

Retinitis pigmentosa type 49, autosomal recessive (CNGA1)

Retinitis pigmentosa type 50, autosomal dominant (BEST1) Retinitis pigmentosa type 51, autosomal recessive (TTC8)

Retinitis pigmentosa type 53, autosomal recessive (RDH12)

(POLG2)

Progressive external ophthalmoplegia with mitochondrial deletions, AR (POLG) Retinitis pigmentosa type 54, autosomal recessive (C2ORF71)

Retinal cone dystrophy 3B (KCNV2)

Retinal cone dystrophy 4 (CACNA2D4)

Retinal dystrophy (USH2A)

Retinitis pigmentosa type 1, autosomal dominant (RP1)

Retinitis pigmentosa type 10, autosomal dominant (IMPDH1)

Retinitis pigmentosa type 11, autosomal dominant (PRPF31)

Retinitis pigmentosa type 12, autosomal recessive (CRB1)

Retinitis pigmentosa type 13, autosomal dominant (PRPF8)Retinitis pigmentosa type 17, autosomal dominant (CA4)

Retinitis pigmentosa type 18, autosomal dominant (PRPF3)

Retinitis pigmentosa type 19, autosomal dominant (ABCA4)

Retinitis pigmentosa type 20, autosomal recessive (RPE65)

Retinitis pigmentosa type 25, autosomal recessive (EYS)

Retinitis pigmentosa type 26, autosomal recessive (CERKL)

Retinitis pigmentosa type 27, autosomal dominant (NRL)

Retinitis pigmentosa type 3, X-linked (RPGR)

Retinitis pigmentosa type 55, autosomal recessive (ARL6)

Retinitis pigmentosa type 56, autosomal recessive (IMPG2)

Retinitis pigmentosa type 57, autosomal recessive (PDE6G)

Retinitis pigmentosa type 58, autosomal recessive (ZNF513)

Retinitis pigmentosa type 61, autosomal recessive (CLRN1)

Retinitis pigmentosa type 7, autosomal dominant (PRPH2)

Retinitis pigmentosa type 9, autosomal dominant (RP9)

Retinitis pigmentosa, juvenile, autosomal recessive (SPATA7)

Retinitis pigmentosatype 14, autosomal recessive (TULP1)Revesz syndrome (TINF2)

Rieger syndrome (FOXC1)

Rieger syndrome (PITX2)

Rieger syndrome (CYP1B1)

Rieger syndrome (PAX6)

Senior-Loken syndrome 5 (IQCB1)

Sensory ataxic neuropathy dysarthria and PROGRESSIVE EXTERNAL

Retinitis pigmentosa type 30, autosomal dominant (FSCN2)

Retinitis pigmentosa type 31, autosomal dominant (TOPORS)

Retinitis pigmentosa type 33, autosomal dominant (SNRNP200)

Retinitis pigmentosa type 35, autosomal dominant (SEMA4A)

Retinitis pigmentosa type 36, autosomal recessive (PRCD)

Retinitis pigmentosa type 37, autosomal dominant (NR2E3)

Retinitis pigmentosa type 38, autosomal recessive (MERTK)

Retinitis pigmentosa type 4, autosomal dominant (RHO)

Retinitis pigmentosa type 40, autosomal recessive (PDE6B)Retinitis pigmentosa type 41, autosomal recessive (PROM1) Retinitis pigmentosa type 42, autosomal dominant (KLHL7)

OPHTHALMOPLEGIA (C10ORF2)

Stargardt Disease type 1 (CNGB3)

Stargardt Disease type 3 (ELOVL4)

Stickler syndrome type I (COL2A1)

Stickler syndrome type II (COL11A1)

Stickler syndrome type III (COL11A2)

Stickler syndrome, AR (COL9A1)

Usher syndrome type 3A (CLRN1)

Vitreoretinochoroidopathy (BEST1)

Waardenburg syndrome/albinism, digenic (TYR)

Wagner syndrome (VCAN )


Weill-Marchesani syndrome - AD (FBN1)

Weill-Marchesani syndrome - AR (ADAMTS10) Wolfram syndrome (WFS1)

Wolfram syndrome (CISD2)

Retinitis pigmentosa type 43, autosomal recessive (PDE6A)

Retinitis pigmentosa type 44, autosomal dominant (RGR)

Retinitis pigmentosa type 45, autosomal recessive (CNGB1)

Retinitis pigmentosa type 46, autosomal recessive (IDH3B)

Retinitis pigmentosa type 47, autosomal recessive (SAG)

4 - Ear, Nose and Throat Diseases

4.1 - Deafness, Nonsyndromic Sensorineural, Autosomal RecessiveDeafness type 3 (MYO15A)Deafness type 30 (MYO3A) Deafness type 39 (HGF)

Deafness 1A (GJB2)

Deafness 1B (GJB6)

Deafness type 16 (STRC)Deafness type 18 (USH1C)

Deafness type 2 (MYO7A)

Deafness type 28 (TRIOBP)

Deafness type 48 (CIB2) Deafness type 6 (TMIE)Deafness type 7 (TMC1)




15

4.1 - Deafness, Nonsyndromic Sensorineural, Autosomal Recessive (continued)Deafness type 77 (LOXHD1)Deafness type 84 (PTPRQ)

Deafness type 9 (OTOF)

Deafness, AR (GJB3)

4.2 - Deafness, Nonsyndromic Sensorineural, Autosomal DominantDeafness type 3A (GJB2)

Deafness type 3B (GJB6)

Deafness type 4 (MYH14)

Deafness type 44 (CCDC50)

Deafness type 5 (DFNA5)

Deafness type 52 (POU4F3)

Deafness type 6 (WFS1)

Deafness type 9 (COCH)

Deafness with keratopachydermia and constrictions of fingers and toes (GJB2)

Keratitis Ichthyosis Deafness syndrome AD (GJB2)

Keratoderma, palmoplantar, with deafness (GJB2)

Knuckle pads and leukonychia sensorineural deafness (GJB2)

Deafness type 1 (DIAPH1)Deafness type 10 (EYA4)

Deafness type 11 (MYO7A)

Deafness type 12 (TECTA)

Deafness type 13 (COL11A2)

Deafness type 15 (POU4F3)

Deafness type 17 (MYH9)

Deafness type 20 (ACTG1)Deafness type 22 (MYO6)

Deafness type 23 (SIX1)

Deafness type 2A (KCNQ4)

Deafness type 2B (GJB3)

Deafness type 36 (TMC1)

4.3 - Deafness, Nonsyndromic Sensorineural, X-linkedDeafness, X-linked type 1 (PRPS1)

4.4 - OthersMohr-Tranebjaerg syndrome (TIMM8A)

Otopaladigital syndrome type1 (FLNA)

Otopaladigital syndrome type 2 (FLNA)

Pendred syndrome (SLC26A4)

Primary cilliary dyskinesia Type 17 (CCDC103)

Primary cilliary dyskinesia Type 2 (DNAAF3)

Alport syndrome, AR (COL4A3)


Alport syndrome, X-Linked (COL4A5)

Auriculocondylar syndrome type 1 (GNA13)

Auriculocondylar syndrome type 2 (PLCB4)

Central hypoventilation syndrome, congenital (ASCL1)

Central hypoventilation syndrome, congenital, with or without Hirschsprung Tietz albinism-deafness syndrome (MITF)

disease (PHOX2B)Jensen syndrome (TIMM8A)

Mitochondrial modifier of deafness (TRMU)

Wolfram syndrome (WFS1)

Wolfram syndrome type 2 (CISD2)

5 - Bone, Skin and Immune DiseasesBuschke-Ollendorff syndrome (LEMD3)

Chediak-Higashi syndrome (LYST)

Chronic granulomatous disease, X-linked (CYBB)

Cleidocranial dysplasia (RUNX2)

Cornelia de Lange sydrome 2 (SMC1A)

Cornelia de Lange syndrome type 1 (NIPBL)

Cornelia de Lange syndrome type 3 (SMC3)Cutis laxa type IB (EFEMP2)

Cutis laxa type IIB (PYCR1)

Cutis laxa type IIIB (PYCR1)

Dermatitis, atopic type 2 (FLG)

Dyskeratosis Congenita, AD type 1 (TERC)

Dyskeratosis Congenita, AD type 1 (TERT)

Dyskeratosis Congenita, AR type 1 (NOP10)

Dyskeratosis Congenita, AR type 2 (NHP2)

Dyskeratosis congenita, X-linked (DKC1)

3MC1 syndrome (MASP1)

3MC2 syndrome (COLEC11)

Acrodysostosis 2 (PDE4D)

Acrofacial dysostosis 1, Nager type (SF3B4)

Adams-Oliver syndrome type 1 (ARHGAP31)

Adams-Oliver syndrome type 2 (DOCK6)

Albinism, oculocutaneous type II (OCA2)

Arthrogryposis, distal type 1 (TPM2)

Arthrogryposis, distal type 1 (MYBPC1)

Arthrogryposis, distal type 2A (MYH3)Arthrogryposis, distal type 2B (TNNT3)

Arthrogryposis, distal type 2B (MYH3)

Arthrogryposis, distal type 2B (TNNI2)

Arthrogryposis, distal type 7 (MYH8)Arthrogryposis, distal type 9 (FBN2)

Arthropathy, progressive pseudorheumatoid, of childhood (WISP3)

Autoinflammation, lipodystrophy, and dermatosis syndrome (PSMB8)




16

5 - Bone, Skin and Immune Diseases (continued)Ectodermal dysplasia, hidrotic (GJB6)

Ectodermal dysplasia, hypohidrotic AR (EDAR)

Ectodermal dysplasia, hypohidrotic AR (EDARADD)

Ectodermal dysplasia, hypohidrotic, X-linked (EDA)

Ichthyosis, lamellar type 3 (CYP4F22)Ichthyosis, lamellar type IV (LIPN)

Ichthyosis, X-linked (STS)

Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (FOXP3)

Keratosis follicularis spinulosa declavans, X-linked (MBTPS2)

Keratosis palmoplantaris striata II (DSP)

Kindler syndrome (FERMT1 )

Laryngoonychocutaneous syndrome (LAMA3)

Legius syndrome (SPRED1)

Ehlers-Danlos syndrome type I/II (COL5A1)

Ehlers-Danlos syndrome type I/II (COL5A2 )

Ehlers-Danlos syndrome type III (TNXB)

Ehlers-Danlos syndrome type III (COL3A1)

Ehlers-Danlos syndrome type IV (COL3A1)

Ehlers-Danlos syndrome type IV (COL5A1)

Ehlers-Danlos syndrome type VI (PLOD1)

Ehlers-Danlos syndrome type VIIA (COL1A1)

Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and

Loeys-Dietz syndrome type 1A (TGFBR1)

Loeys-Dietz syndrome type 1B (TGFBR2)

Loeys-Dietz syndrome type 1C (SMAD3)

Loeys-Dietz syndrome type 2A (TGFBR1)

hearing loss (FKBP14)

Ehlers-Danlos syndrome, type VIIB (COL1A2)Epidermolysis bullosa dystrophica (COL7A1)

Epidermolysis bullosa junctionalis with pyloric atresia (ITGA6)

Epidermolysis bullosa junctionalis with pyloric atresia (ITGB4)

Epidermolysis bullosa simplex (KRT5)Epidermolysis bullosa simplex (KRT14)

Epidermolysis bullosa simplex, autosomal recessive (DST )

Epidermolysis bullosa, junctional (COL17A1)Epidermolysis bullosa, junctional (LAMB3)

Epidermolysis bullosa, junctional (LAMC2)

Epidermolysis bullosa, junctional LAMA3 (isoform 1, larger, includes IF2) (LAMA3)

Loeys-Dietz syndrome type 2B (TGFBR2)

Mal de Meleda (SLURP1)

Mandibuloacral dysplasia with type B lipodystrophy (ZMPSTE24) Marfan syndrome (FBN1)

McKusick-Kaufman syndrome (MKKS)

Muckle-wells syndrome (NLRP3)

Multicentric carpotarsal osteolysis syndrome (MAFB)

Nail-Patella syndrome (LMX1B)

Netherton syndrome (SPINK5)

Neurofibromatosis type I (NF1)

Neurofibromatosis type I (SPRED1)

Neurofibromatosis type II (NF2)

Odontoonychodermal dysplasia (WNT10A)

Olmsted syndrome (TRPV3)

Osteogenesis imperfecta (COL1A1)

Osteogenesis imperfecta (COL1A2)

Osteogenesis imperfecta type IX (PPIB)Osteogenesis imperfecta type VII (CRTAP)

Osteogenesis imperfecta type VIII (LEPRE1)

Osteogenesis imperfecta type XI (FKBP10)

Osteopathia striata with cranial sclerosis (FAM123B)

Osteopetrosis of infancy, malignant (SNX10)

Papillon-Lefevre syndrome (CTSC)

Peeling skin syndrome, acral type (TGM5)

Porphyria cutanea tarda (UROD)

Pterygium syndrome (CHRNG)Pycnodysostosis (CTSK)

Restrictive dermopathy, lethal (ZMPSTE24)Skin fragility-woolly hair syndrome (DSP)

Spondylocostal dysostosis, autosomal recessive type II (MESP2)Spondylocostal dysostosis, autosomal recessive type III (LFNG)

Epidermolysis bullosa, lethal acantholytic (DSP)

Epidermolytic hyperkeratosis (KRT1)

Epidermolytic hyperkeratosis (KRT10)Epidermolytic palmoplantar keratoderma (KRT9)Erythrokeratodermia variabilis et progressive (GJB3)

Erythrokeratodermia variabilis et progressive (GJB4)

Feingold syndrome type 2 (MIR17HG)

Fibrosis of extraocular muscles, congenital type II (PHOX2A)Floating-Harbor syndrome (SRCAP)

Frank-ter Haar syndrome (SH3PXD2B)

Geleophysic dysplasia (ADAMTSL2)

Haim-Munk syndrome (CTSC)

Hemophagocytic lymphohistiocytosis, familial type 1 (PRF1)

Hemophagocytic lymphohistiocytosis, familial type 3 (UNC13D)

Hemophagocytic lymphohistiocytosis, familial type 4 (STX11)

Hemophagocytic lymphohistiocytosis, familial type 5 (STXBP2)

Hypereosinophilic syndrome, idiopathic, resistant to imatinib (PDGFRA) Ichthyosiform erythroderma, congenital, nonbullous type 1 (ALOX12B)

Ichthyosiform erythroderma, congenital, nonbullous type 1 (ALOXE3)

Ichthyosiform erythroderma, congenital, nonbullous type 1 (NIPAL4)

Ichthyosiform erythroderma, congenital, nonbullous type 1 (TGM1)

Ichthyosis congenita, Harlequin fetus type (ABCA12)

Ichthyosis congenital, autosomal recessive - PNPLA1 related (PNPLA1)

Spondylometaepiphyseal dysplasia, short limb-hand type (DDR2)

Systemic Lupus Erythematosus (DNASE1)

Telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber Type 1 (ENG)

Ichthyosis follicularis, atricia, and photophobia syndrome (MBTPS2) Telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber Type 2(ACVRL1)

Terminal osseous dysplasis (FLNA)

Trichothiodystrophy, nonphotosensitive type 1 (MPLKIP)

UV-sensitive syndrome 3 (UVSSA)

Ichthyosis vulgaris (FLG) Ichthyosis, bullous type (KRT2)

Ichthyosis, lamellar type 1 (TGM1)

Ichthyosis, lamellar type 2 (ABCA12)




17

5 - Bone, Skin and Immune Diseases (continued)Waardenburg syndrome, type 2E, with or without neurologic involvement Wolcott-Rallison syndrome (EIF2AK3)

(SOX10)

Waardenburg syndrome, type 4C (SOX10)

6 - Cardiological DiseasesArrhythmogenic right ventricular cardiomyopathy type 1 (TGFB3)

Arrhythmogenic right ventricular cardiomyopathy type 10 (DSG2)

Arrhythmogenic right ventricular cardiomyopathy type 11 (DSC2) Arrhythmogenic right ventricular cardiomyopathy type 12 (JUP)

Arrhythmogenic right ventricular cardiomyopathy type 5 (TMEM43)

Arrhythmogenic right ventricular cardiomyopathy type 8 (DSP)

Arrhythmogenic right ventricular cardiomyopathy type 9 (PKP2)

Atrial fibrillation type 11 (GJA5)

Atrial fibrillation type 3 (KCNQ1)

Atrial fibrillation type 4 (KCNE2)

Atrial fibrillation type 6 (NPPA)

Atrial fibrillation type 7 (KCNA5)

Atrial septal defect type 3 (MYH6)

Atrial septal defect type 9 (GATA6)

Atrioventricular septal defect type 5 (GATA6)

BARTH SYNDROME (TAZ)

Brugada syndrome type 1 (SCN5A)

Brugada syndrome type 2 (GPD1L)

Brugada syndrome type 3 (CACNA1C)

Brugada syndrome type 4 (CACNB2)

Brugada syndrome type 5 (SCN1B)

Brugada syndrome type 6 (KCNE3)

Brugada syndrome type 7 (SCN3B)

Cardiac valvular dysplesia, X-linked (FLNA)

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase

Cardiomyopathy, dilated type 1Z (TNNC1)

Cardiomyopathy, dilated type 2A (TNNI3)

Cardiomyopathy, dilated type 3B (DMD)

Cardiomyopathy, dilated type J (EYA4)

Cardiomyopathy, familial hypertrophic (CAV3)

Cardiomyopathy, familial hypertrophic type 1 (MYH7)

Cardiomyopathy, familial hypertrophic type 10 (MYL2)

Cardiomyopathy, familial hypertrophic type 11 (ACTC1)

Cardiomyopathy, familial hypertrophic type 12 (CSRP3)

Cardiomyopathy, familial hypertrophic type 2 (TNNT2)

Cardiomyopathy, familial hypertrophic type 3 (TPM1)

Cardiomyopathy, familial hypertrophic type 4 (MYBPC3)

Cardiomyopathy, familial hypertrophic type 6 (PRKAG2)

Cardiomyopathy, familial hypertrophic type 7 (TNNI3)

Cardiomyopathy, familial hypertrophic type 8 (MYL3)

Cardiomyopathy, familial hypertrophic type9 (TTN)

Cardiomyopathy, familial restrictive type 1 (TNNI3)

Cardiomyopathy, fatal (MTTI)

Cardiomyopathy, idiopathic dilated, mitochondrial (MTTH)

Danon disease (LAMP2)

Dilated cardiomyopathy with woolly hair and keratoderma (DSP)Encephalomyopathy, mitochondrial (MTTL2)Jervell and Lange-Nielsen syndrome type 1 (KCNQ1)

Jervell and Lange-Nielsen syndrome type 2 (KCNE1)

Leber optic atrophy (MTND1)



Long QT syndrome type 1 (KCNQ1)

deficiency (SCO2)Cardiofaciocutaneous syndrome (KRAS)

Cardiofaciocutaneous syndrome (BRAF)

Cardiofaciocutaneous syndrome (MAP2K1)

Cardiofaciocutaneous syndrome (MAP2K2)Cardiomyopathy, dilated (MYBPC3)

Cardiomyopathy, dilated type 1A (LMNA)

Cardiomyopathy, dilated type 1C (LDB3)

Cardiomyopathy, dilated type 1D (TNNT2)

Cardiomyopathy, dilated type 1E (SCN5A)

Cardiomyopathy, dilated type 1EE (MYH6) Cardiomyopathy, dilated type 1HH (BAG3)

Cardiomyopathy, dilated type 1I (DES)

Cardiomyopathy, dilated type 1L (SGCD)

Cardiomyopathy, dilated type 1M (CSRP3) Cardiomyopathy, dilated type 1N (TCAP)

Cardiomyopathy, dilated type 1O (ABCC9)

Cardiomyopathy, dilated type 1P (PLN)

Cardiomyopathy, dilated type 1R (ACTC1)Cardiomyopathy, dilated type 1S (MYH7)

Long QT syndrome type 10 (SCN4B)

Long QT syndrome type 11 (AKAP9)

Long QT syndrome type 12 (SNTA1)

Long QT syndrome type 13 (KCNJ5)

Long QT syndrome type 2 (KCNH2)

Long QT syndrome type 3 (SCN5A)

Long QT syndrome type 4 (ANK2)

Long QT syndrome type 5 (KCNE1)

Long QT syndrome type 6 (KCNE2)

Long QT syndrome type 7 (KCNJ2)

Long QT syndrome type 8 (CACNA1C)

Long QT syndrome type 9 (CAV3)


MELAS syndrome (MTTL1)

MERRF syndrome (MTTK)

MERRF/MELAS overlap syndrome (MTTS1)MERRF/MELAS overlap syndrome (MTTS2)

Mitochondrial myopathy, isolated (MTTD) Myopathy (MTTQ)

Myopathy, mitochondrial (MTTM)

Short QT syndrome type 1 (KCNH2)

Cardiomyopathy, dilated type 1T (TMPO)

Cardiomyopathy, dilated type 1U (PSEN1)

Cardiomyopathy, dilated type 1V (PSEN2)Cardiomyopathy, dilated type 1W (VCL)

Cardiomyopathy, dilated type 1X (FKTN)

Cardiomyopathy, dilated type 1Y (TPM1)




18

6 - Cardiological Diseases (continued)Ventricular tachycardia, catecholaminergic polymorphic type 1 (RYR2)

Ventricular tachycardia, catecholaminergic polymorphic type 2 (CASQ2 )Wolff -Parkinson-White syndrome (PRKAG2)

Short QT syndrome type 3 (KCNJ2)

Sick sinus syndrome (SCN5A)

Tibial muscular dystrophy, tardive (TTN)

Ventricular fibrillation, paroxysmal familial type 1 (SCN5A)

7 - Vascular DiseasesB Fabry Disease (GLA)Angioedema, hereditary (SERPING1)

Antithrombin III deficiency (SERPINC1)

Aortic Aneurysm, familial thoracic (MYH11)

Aortic Aneurysm, familial thoracic (ACTA2)

Aortic Aneurysm, familial thoracic (TGFBR1)

Aortic Aneurysm, familial thoracic (TGFBR2)

Aortic Aneurysm, familial thoracic (FBN1)

Aortic Aneurysm, familial thoracic (MYLK)

Factor II deficiency (F2)

Glycoprotein Ia C807T polymorphism (ITGA2)

Homocystinuria (CBS)

Homocystinuria (MTHFR)

Loeys-Dietz syndrome, type 4 (TGFB2)

Methylcobalamin deficiency CblG type (MTR)

Mitochondrial myopathy - lactic acidosis (MTtRNA, MTND)

Plasminogen activator inhibitor type 1 (SERPINE1)

Protein C Deficiency, AD (PROC)

Protein S Deficiency, AD (PROS1)

Pulmonary hypertension of the newborn, persistent (CRHR1)

Aortic aneurysm, familial thoracic type 6 (ACTA2)

Arterial Hypertension, idiopathic pulmonary (BMPR1B) Arterial Tortuosity Syndrome (SLC2A10)

CADASIL (NOTCH3)

CARASIL (HTRA1)

8 - Liver, Kidney and Endocrinological DiseasesHyperaldosteronism, familial, type III (KCNJ5) 17-beta hydroxysteroid dehydrogenase X deficiency (HSD17B10)



Alport syndrome, X-Linked (COL4A5)

Bardet-Biedl syndrome LZTFL1 related (LZTFL1)

Bardet-Biedl syndrome type 1 (BBS1)


Bardet-Biedl syndrome type 11 (TRIM32)



Hyperbilirubinemia, Rotor type, digenic (SLCO1B3)Hypogonadotropic hypogonadism (KISS1R)

Hypogonadotropic hypogonadism (NELF)

Hypophosphatemic rickets, AD (FGF23)

Hypophosphatemic rickets, AR type 1 (DMP1)

Hypophosphatemic rickets, X-linked (PHEX)

Immunodeficiency with natural killer cell deficiency (MCM4)

Immunodeficiency, common variable, 7 (CR2)

Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus

Bardet-Biedl syndrome type 15 (WDPCP)


Bardet-Biedl syndrome type 3 (ARL6)



Bardet-Biedl syndrome type 6 (MKKS)


Bardet-Biedl syndrome type 8 (TTC8)


B Cystinosis, nephropathic (CTNS)

infection and neoplasia (MAGT1)

Kallmann syndrome type 2 (FGFR1)

Kallmann syndrome type 2 (KAL1)

Kallmann syndrome type 2 (PROKR2)

Kallmann syndrome type 2 (PROK2)

Kallmann syndrome, SEMA3A related (SEMA3A)

Liddle syndrome (SCNN1B)

Liddle syndrome (SCNN1G)

Lipoprotein glomerulopathy (APOE)

Lowe syndrome (OCRL)


Meckel syndrome 10 (B9D2)

Meckel syndrome 9 (B9D1)

Meckel syndrome type 1 (MKS1)

Meckel syndrome type 3 (TMEM67)

Meckel syndrome type 4 (CEP290)

Meckel syndrome, type 8 (TCTN2)

Medullary cystic kidney disease type 2 (UMOD) Nephrogenic syndrome of inapproriate antidiuresis (AVPR2)

Nephronophthisis 9 (NEK8) Nephronophthisis type 1 (NPHP1)

Cystinuria (SLC3A1)Cystinuria (SLC7A9)

Diabetes insipidus, nephrogenic, autosomal (AQP2)

Dubin-Johnson syndrome (ABCC2)

Epstein syndrome (MYH9)

Fanconi-Bickel syndrome (SLC2A2)

Focal segmental glomerulosclerosis type 1 (ACTN4)

Focal segmental glomerulosclerosis type 2 (TRPC6)

Focal segmental glomerulosclerosis type 5 (INF2)

Gitelman syndrome (SLC12A3)

Hepatic failure, early onset, and neurologic disorder (SCO1)




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8 - Liver, Kidney and Endocrinological Diseases (continued)Polycystic kidney disease type 2, AD (PKD2)

Premature ovarian failure type 1 (FMR1)

Pseudohypoaldosteronism, type I, autosomal recessive (SCNN1A)

Pseudohypoaldosteronism, type I, autosomal recessive (SCNN1B)

Pseudohypoaldosteronism, type I, autosomal recessive (SCNN1G)

Renal tubular dysgenesis (REN)

Rickets, vitamin D-resistant, type IIA (VDR)

Senior-Loken syndrome 7 (SDCCAG8)

Thromocytopenia-Absent-Radius-Syndrome (RBM8A)

Trifunctional protein deficiency (HADHB)

Vesicoureteral Reflux 2 (ROBO2)

Wolcott-Rallison syndrome (EIF2AK3)

Nephronophthisis type 3 (NPHP3)

Nephronophthisis type 4 (NPHP4)Nephronophthisis type 7 (GLIS2)

Nephronophthisis-like nephropathy 1 (XPNPEP3)

Nephrosis, Finnish type (NPHS1)

Nephrotic syndrome (NPHS2)

Obesity, adrenal insufficiency, and red hair due to POMC deficiency (POMC)

Obesity, early-onset, susceptibility to (POMC)

Panhypopituitarism, X-linked (SOX3)

Pituitary hormone deficiency, combined type III (LHX3)

Pituitary hormone deficiency, combined type IV (LHX4)

Polycystic kidney disease type 1, AD (PKD1)

Polycystic kidney disease type 1, AR (PKHD1)

9 - Reproductive GeneticsAutosomal nonsyndromic male infertility (CATSPER2)

Deafness type 16 (STRC)

SPGF5 (AURKC)

SPGF6 (SPATA16)

SPGF7 (CATSPER1)

SPGF8 (NR5A1)

SPGF9 (DPY19L2)

Hypogonadotropic hypogonadism (NELF)

Hypogonadotropic hypogonadism (KISS1)

Oogenesis dysfunction (SOHLH1)

SPGF4 (SYCP3)

10 - Tumoral and Haematological DiseasesLymphoproliferative syndrome, X-linked type 1 (SH2D1A)

Lymphoproliferative syndrome, X-linked type 2 (XIAP) Melanoma, cutaneous malignant, susceptibility to type 2 (CDKN2A) Melanoma, cutaneous malignant, susceptibility to type 3 (CDK4) Melanoma, cutaneous malignant, susceptibility to type 5 (MC1R) Multiple endocrine neoplasia type IIA (RET)

Multiple endocrine neoplasia type IIB (RET)

Neurofibromatosis type I (NF1)

Neurofibromatosis type I (SPRED1)

Neurofibromatosis type II (NF2)

Paragangliomas type 4 (SDHB)

Peutz-Jeghers syndrome (STK11)

Pheochromocytoma type 1 (SDHA)Pheochromocytoma type 2 (SDHB)

Pheochromocytoma type 3 (SDHC)

Adenomatous polyposis of the colon (APC)

Beckwith-Wiedemann syndrome (CDKN1C)

Beckwith-Wiedemann syndrome (NSD1)

Bone marrow failure (SRP72)

Breast-ovarian cancer (BRCA1)

Breast-ovarian cancer (BRCA2)

Breast-ovarian cancer (RAD51C)

Breast-ovarian cancer (RAD51D)

Colorectal adenomatous polyposis (MUTYH)

Colorectal cancer, hereditary nonpolyposis type 1 (MSH2) Colorectal cancer, hereditary nonpolyposis type 2 (MLH1)Colorectal cancer, hereditary nonpolyposis type 4 (PMS2)

Colorectal cancer, hereditary nonpolyposis type 5 (MSH6)

Colorectal cancer, hereditary nonpolyposis type 6 (TGFBR2)

Colorectal cancer, hereditary nonpolyposis type 7 (MLH3) Colorectal cancer, hereditary nonpolyposis type 8 (EPCAM)

Cowden disease (PTEN)

Dehydrated hereditary stomatocytosis (PIEZO1)

Gastric cancer, hereditary diffuse (CDH1)

Gastrointestinal stromal tumor (KIT)

Gastrointestinal stromal tumor, somatic (PDGFRA)

Hydrolethalus syndrome (HYLS1)

Hypereosinophilic syndrome, idiopathic, resistant to imatinib (PDGFRA)

Juvenile polyposis syndrome (BMPR1A)

Juvenile polyposis syndrome (SMAD4)

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)

Li-Fraumeni syndrome type 1 (TP53)

Li-Fraumeni syndrome type 2 (CHEK2)

Lung cancer (BRAF)

Lung cancer (EGFR+E1563)

Pheochromocytoma type 4 (SDHD)

Pheochromocytoma type 5 (SDHAF2)Pheochromocytoma type 6 (VHL)

Pheochromocytoma type 7 (PRKAR1A)Pheochromocytoma type 8 (TMEM127)

Pheochromocytoma type 9 (MAX)

Pleuropulmonary blastoma (DICER1)Polyposis syndrome, hereditary mixed (GREM1)

Polyposis syndrome, hereditary mixed type 2 (BMPR1A)

Prostate cancer (ELAC2)

Prostate cancer (RNASEL)

Prostate cancer (BRCA2)

Prostate cancer (SRD5A2)

Renal cell carcinoma, papillary type 1 (MET)

SCID, autosomal recessive, T-negative/B-positive type (JAK3)




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10 - Tumoral and Haematological Diseases (continued)Shwachman-Diamond syndrome (SBDS)

Thrombocytopenia congenital amegakaryocytic (MPL)

von Hippel-Lindau syndrome (VHL)

von Willebrand disease (VWF)

11 - Malformation and/or Retardation SyndromesADULT syndrome, split hand-foot malformation (TP63)

Alagille syndrome type 1 (JAG1)

Alagille syndrome type 2 (NOTCH2)

Ankyloblepharon-ectodermal defects-cleft lip/palate (TP63)

Athabaskan brainstem dysgenesis syndrome (HOXA1)

Atrial septal defect type 2 (GATA4)

Atrial septal defect with atrioventricular conduction defects (NKX2-5)

Auriculocondylar syndrome (GNA13)

Auriculocondylar syndrome type 2 (PLCB4)

Axenfeld-Rieger syndrome type 3 (FOXC1)

Axenfeld-Rieger syndrome type 3 (PITX2)

Axenfeld-Rieger syndrome type 3 (PAX6)

Axenfeld-Rieger syndrome type 3 (CYP1B1)

Goldberg-Shprintzen megacolon syndrome (KIAA1279)

GRACILE syndrome (BCS1L)

Greig cephalopolysyndactyly syndrome (GLI3)

Hamamy syndrome (IRX5)

Hemimegalencephaly (AKT3)

Holoprosencephaly 2 (SIX3)

Holoprosencephaly 3 (SHH)

Holoprosencephaly 5 (ZIC2)

Holt-Oram syndrome (TBX5)

Holt-Oram syndrome (SALL4)

Hydranencephaly with abnormal genitalia/Lissencephaly X-linked 2 (ARX)

Hyperphosphatasia with mental retardation syndrome 2 (PIGO)

Hypogonadism, alopecia, Diabetes mellitus, mental retardation, and

Baller-Gerold syndrome (RECQL4)

Baraitser-Winter syndrome 1 (ACTB)

Basal cell nevus syndrome, Gorlin syndrome (PTCH1)

Basal ganglia calcification, idiopathic, 3 (SLC20A2)

Bjornstad syndrome (BCS1L)

Brachydactyly type B1 (ROR2)

Bruck syndrome type 2 (PLOD2)

Campomelic dysplasia (SOX9)

Camurati-Engelmann disease (TGFB1)

Cantu syndrome (ABCC9)

Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma

extrapyramidal syndrome (DCAF17 )

Hypospadias 2, X-linked (MAMLD1)

Jawal syndrome (RBBP8)

Kabuki syndrome (MLL2)

Kallmann syndrome (CHD7)

Kallmann syndrome (FGF8)

Kallmann syndrome type 2 (FGFR1)

Kallmann syndrome type 2 (KAL1)

Kallmann syndrome type 2 (PROKR2)

Kallmann syndrome type 2 (PROK2)

Kleefstra syndrome (EHMT1)

Koolen syndrome (KANSL1)

LEOPARD syndrome 3 (BRAF)

Limb-mammary syndrome (TP63)

Lissencephaly type 1 (PAFAH1B1)

Lissencephaly type 3 (TUBA1A)

Lissencephaly/Subcortical laminal heteropia, X-linked (DCX)

Lujan-Fryns syndrome (MED12)

syndrome (SNAP29)

Cerebrooculofacioskeletal syndrome, type 4 (ERCC1)

CHARGE syndrome (CHD7)

CHIME syndrome (PIGL)

Choroidermia (CHM)

CLOVE syndrome (PIK3CA)

Club foot (PITX1)

Congenital short-bowel syndrome (CLMP)

Cortical dysplasia, complex, with other brain malformations (TUBB3)

Mental retardation, X-linked, syndromic type 14 (UPF3B)

Microcephaly 2, primary, autosomal recessive, with or without cortical

Costello syndrome (HRAS)

Craniosynostosis type 2 (MSX2)

Currarino syndrome (MNX1)

malformations (WDR62)

Microcephaly 3, primary, autosomal recessive (CDK5RAP2)

Microcephaly 6, primary, autosomal recessive (CENPJ)

Microcephaly with or without chorioretinopathy; Lymphedema; or Mental

Deafness type 20 (ACTG1)

DiGeorge syndrome (TBX1)

Duane-radial ray syndrome (SALL4)

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (TP63)

Faciogenital dysplasia (FGD1)

Feingold syndrome (MYCN)

Fetal akinesia deformation sequence (DOK7)

Fetal akinesia deformation sequence (RAPSN)

Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly

retardation, MCLMR (KIF11)

Mowat-Wilson syndrome (ZEB2)

MR X-linked typev29 (ARX)

Nicolaides Baraitser syndrome (SMARCA2)

Noonan syndrom like (SHOC2)

Noonan syndrome type 1 (PTPN11)

Noonan syndrome type 3 (KRAS)

Noonan syndrome type 4 (SOS1)

Noonan syndrome type 5 (RAF1)

Noonan syndrome type 6 (NRAS)

(WNT7A)

Fraser syndrome (GRIP1)

Fumarase deficiency (FH Genitopatellar syndrome (KAT6B)

Noonan syndrome type 7 (BRAF)

Oculodentodigital dysplasia (GJA1)

Olmsted syndrome (TRPV3)






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11 - Malformation and/or Retardation Syndromes (continued)Rubinstein-Taybi syndrome (EP300)

SC Phocomelia syndrome (ESCO2)

Opitz-Kaveggia syndrome (MED12)

Orofacial cleft type 11 (BMP4)

Orofacial cleft type 5 (MSX1)

Pallister-Hall syndrome (GLI3)

Papillorenal syndrome (PAX2)

Parietal foramina type 1 (MSX2)

Perlman Syndrome (DIS3L2)

Pitt-Hopkins syndrome (TCF4)

Pitt-Hopkins syndrome (NRXN1)

Pituitary adenoma, growth hormone secreting (GNAS)

Pituitary hormone deficiency, combined type 1 (POU1F1)

Pituitary hormone deficiency, combined type 2 (PROP1)

Porencephaly, familial (COL4A1)

Schizencephaly (EMX2)

Seckel syndrome 2 (RBBP8)

Seckel syndrome 4 (CENPJ)

Septooptic dysplasia (HESX1)

Sotos syndrome (NSD1)

Sotos-like syndrome (NFIX)

Speech-language disorder type 1 (FOXP2)

Stuve-Wiedemann syndrome (LIFR)

Tetraamelia, autosomal recessive (WNT3)

Three M syndrome type 1 (CUL7)

Toe syndactyly, telecanthus, and anogenital and renal malformations (FAM58A)

Postaxial acrofacial dysostosis (DHODH)

Proud syndrome (ARX)

RAPADILINO syndrome (RECQL4)

Rapp-Hodgkin syndrome (TP63)

Rett syndrome, congenital variant (FOXG1)

Rett syndrome/preserved speech variant (MECP2)

Roberts syndrome (ESCO2)

Robinow syndrome (ROR2)

Rothmund-Thomson syndrome (RECQL4)

Rubinstein-Taybi syndrome (CREBBP)

Tooth agenesis, selective type 1 (MSX1)

Tooth agenesis, selective type 3 (PAX9)

Townes-Brocks syndrome (SALL1)

Townes-Brocks syndrome (SALL4)

Trichohepatoenteric syndrome 2 (SKIV2L)

Ulna and fibula, absence of, with severe limb deficiency (WNT7A)

Ulnar-Mammary syndrome (TBX3)


Weaver syndrome (NSD1)

Witkop syndrome (MSX1)

12 - CGH ArrayArray CGH (Agilent 180k) F

Documents

Prof. Dr. med. Jürgen Kohlhase Praxis für … · wir in der Regel auch Gendosisanalysen mittels quantitativer Real-Time PCR (Borozdin et al. 2004) oder MLPA an. Leistungen gemäß