Krankheit GenCUL7, OBSL1, CCDC8, FBXW8

SRYSRY

WNT4SRYSRY

SRY

NR5A1

SRY

SRY, NR5A1NR5A1SRYSRY

TRIP11

SLC26A2 (=DTDST)

TRIP11

GDF5 (=CDMP1)

FGFR3IGFALSKIF7IHHRAB23

TP63 (=p63)

BMPR1BGDF5 (=CDMP1)GDF5 (=CDMP1)GDF5 (=CDMP1)NPR2

HPGD

ACADVL (=VLCAD)BRAF

CTNNB1; LIFR

NR5A1

TP63 (=p63)TP63 (=p63)

EDN3GATM

MMP14, MMP2WNT7A

COL4A5, COL4A3, COL4A4

TRPV4RMRP, POP1

GATA1

SMAD3

COL4A1, COL4A2

TP63 (=p63)

3M syndrome

46,XX Gonadal dysgenesis, complete, SRY-positive46,XX sex reversal 1 (SRXX1)

46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs (SERKAL)46,XX sex reversal, SRY-positive46,XX True hermaphroditism, SRY-positive

46,XY Gonadal dysgenesis, complete

46,XY gonadal dysgenesis, complete or partial, with or without adrenal failure

46,XY Gonadal dysgenesis, complete, SRY-related

46,XY sex reversal (SRXY)46,XY sex reversal, partial or complete, NR5A1-related46,XY sex reversal, SRY-related46,XY True hermaphroditism, SRY-relatedAarskog-Scott syndrome (AAS) FGD1+del Abdominal aortic aneurysm COL3A1+del

Achondrogenesis IA (ACG1A)

Achondrogenesis Ib (ACG1B)

Achondrogenesis II (ACG2) COL2A1+delAchondrogenesis, Houston-Harris type

Achondrogenesis, Langer-Saldino type COL2A1+del

Achondrogenesis, type 2, formerly

Achondroplasia (ACH)Acid-labile subunit, deficiency of (ALSD)Acrocallosal syndromeAcrocapitofemoral dysplasia (ACFD) Acrocephalopolysyndactyly type 2 (ACPS2)Acrocephalosyndactyly (ACS) FGFR1+del (=KAL2), FGFR2+del, TWIST1+delAcrocephaly, skull asymmetry, and mild syndactyly FGFR2+del, TWIST1+delAcro-dermato-ungual-lacrimal-tooth (ADULT) syndrome Acrodysostosis, with or without hormone resistance (ACRDYS) PRKAR1A+del, PDE4DAcrofacial dysostosis, type Weyers EVC (=EVC1)+del, EVC2+delAcromesomelic chondrodysplasia with genital anomalies (AMDGA)Acromesomelic dwarfismAcromesomelic dysplasia, Grebe type (AMDG) Acromesomelic dysplasia, Hunter-Thompson type (AMDH)Acromesomelic dysplasia, Maroteaux type (AMDM)Acromicric dysplasia (ACMICD) FBN1+delAcropachy, hereditaryAcyl-CoA dehydrogenase medium chain deficiency (ACADM) ACADM (=MCAD)+delAcyl-CoA dehydrogenase very long chain deficiency (ACADVLD)Adenocarcinoma of lung, somatic Adenoma, periampullary, somatic APC+del+dup

Adenomas, salivary gland pleomorphic (PSA; SGPA)Adenomatous polyposis coli, familial (FAP) APC+del+dupAdrenal hyperplasia, congenital, due to cytochrome P450 oxidoreductase deficiency POR+delAdrenocarcinoma of kidney VHL+delAdrenocortical insufficiencyAdrenocortical nodular dysplasia, primary PRKAR1A+delAdrenocortical tumor, somatic PRKAR1A+delADULT syndrome (= Acro-dermato-ungual-lacrimal-tooth syndrome)AEC syndromeAEG syndrome SOX2+delAganglionic megacolon (MGC)AGAT deficiencyAlagille syndrome, type 1 (ALGS1) JAG1+del+dupAl-Aqeel Sewairi syndrome Al-Awadi/Raas-Rothschild syndrome (AARRS) Albright hereditary osteodystrophy-like syndrome HDAC4+delAllan-Herndon syndrome SLC16A2 (=MCT8)+delAllan-Herndon-Dudley syndrome (AHDS) SLC16A2 (=MCT8)+delAlpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity (T-CMVA)

RAG1+del

Alpha-Galactosidase A deficiency GLA+del Alpha-thalassemia myelodysplasia syndrome (ATMDS) ATRX+del+dup Alpha-thalassemia/mental retardation syndrome, nondeletion type ATRX+del+dup Alpha-thalassemia/mental retardation syndrome, X-linked (ATRX) ATRX+del+dupAlport syndromeAlport syndrome and diffuse leiomatosis (ATS-DL) COL4A5+delAmyotrophy, neurogenic scapuloperoneal, New England typeAnauxetic dysplasia Anderson-Fabry disease GLA+del Anemia, X-linked, with/without neutropenia and/or platelet abnormalities ( XLANP)

Aneurysm, abdominal aortic (AAA) COL3A1+delAneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations TGFB2+del

Aneurysms-osteoarthritis syndrome Angelman syndrome (AS) UBE3A+del Angelman syndrome-like MECP2+del, CDKL5+del+dupAngioedema, hereditary, type I+II (HAE1+2) SERPING1 (=C1NH)+delAngiokeratoma corporis diffusum GLA+del Angioneurotic edema, hereditary (HANE) SERPING1 (=C1NH)+delAngiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps (HANAC) Aniridia (AN) PAX6+delAniridia II (AN2), formerly PAX6+delAniridia, cerebellar ataxia, and mental deficiency (ACAMD) PAX6+delAniridia, cerebellar ataxia, and mental retardation (ACAMR) PAX6+delAnkyloblepharon-ectodermal defects-cleft lip/palate (AEC)

VAX1

PLCG2del

MYLK

GATM

TPM2TNNT3, TNNI2, MYH3, TPM2TNNT3, TNNI2, TPM2TPM2TPM2MYH3TNNT3, TNNI2, MYH3, TPM2FBN2

WISP3WDR34, IFT80, DYNC2H1RPSA (= LAMR1)RPSA (= LAMR1)PC

FLNB, SLC26A2 (=DTDST)HOXA1SPINK5

EDN3

TCTN3LMNB2GJB2 (=CX26)

FBN2

CYP7B1

KRAS, FGFR3, HRAS

MED12CD96SRP72TERTPTH1R (= PTHR)FLNBHOXA1GDF5 (=CDMP1)IHH

NOGGDF5 (=CDMP1)

AnophthalmiaAnophthalmia, clinical, with associated anomalies SOX2+delAnophthalmia-esophageal-genital (AEG) syndrome SOX2+delAntibody deficiency and immune dysregulation, PLACG2-associated (PLAID) Antley-Bixler syndrome (ABS) POR+del, FGFR2+delAntoplo disease LAMP2+delAnus, imperforate, with hand, foot, and ear anomalies SALL1+delAortic aneurysm and dissection, familial thoracic (TAAD) MYH11+dupAortic aneurysm, ascending, and dissection FBN1+delAortic aneurysm, familial abdominal 1 (AAA1) COL3A1+del, TGFBR2, MYH11+dup, TGFBR1+dup, ACTA2, MYLKAortic dissection, familial, with or without aortic aneurysmAortic stenosis, calcific NOTCH1+delAortic valve disease NOTCH1+delAortic valve disease 1 (AOVD1) NOTCH1+delAortic valve, bicuspid NOTCH1+delAortic valve, calcification of NOTCH1+delApert syndrome (APRS) FGFR2+delAplasia of lacrimal and salivary glands (ALSG) FGF10+delAplastic anemia, susceptibility to (AA) TERC+del, TERT+delAPOC2 deficiency APOC2+delApolipoprotein C-II deficiency APOC2+delArginine:glycine amidinotransferase deficiency Arthrochalasis multiplex congenita COL1A2+delArthrogryposis multiplex congenita, distal, type 1 (AMCD1)Arthrogryposis multiplex congenita, distal, type 2B (AMCD2B)Arthrogryposis multiplex congenita, distal, type II, with craniofacial abnormalitiesArthrogryposis, distal, type 1 (DA1)Arthrogryposis, distal, type 1A (DA1A) Arthrogryposis, distal, type 2A (DA2A)Arthrogryposis, distal, type 2B (DA2B) Arthrogryposis, distal, type 9 (DA9) Arthroophthalmopathy, hereditary progressive (AOM) COL2A1+delArthropathy, progressive pseudorheumatoid, of childhood (PPAC) Asphyxiating thoracic dystrophyAsplenia, familialAsplenia, isolated congenital (ICAS) Ataxia with lactic acidosis II Ateliotic dwarfism with hypogonadism PROP1+delAtelosteogenesis (AO) Athabaskan brainstem dysgenesis syndrome (ABSD) AtopyATR, nondeletion type ATRX+del+dup Atrial myxoma, familial PRKAR1A+delAtrial septal defect (ASD) GATA4+del, NKX2-5Atriodigital dysplasia TBX5+del+dupAtrioventricular septal defect (AVSD) GATA4+del, CRELDATR-X syndrome ATRX+del+dup Atypical mycobacterial infection, disseminated, X-linked type 1 IKBKG (=NEMO)+delAtypical mycobacteriosis, familial (AMCBX1) IKBKG (=NEMO)+delAutism susceptibility, X-linked 3 (AUTSX3) MECP2+del Autonomic control, congenital failure of Avascular necrosis of the femoral head (ANFH) COL2A1+delAxenfeld-Rieger syndrome (ARS) PITX2+delBannayan-Riley-Ruvalcaba syndrome (BRRS) PTEN+delBannayan-Zonana syndrome (BZS) PTEN+delBaraitser-Burn syndromeBarraquer-Simons syndrome Bart-Pumphrey syndrome (BPS)Basal cell carcinoma, somatic (BCC) PTCH1+del, PTCH2Basal cell nevus syndrome (BCNS) PTCH1+delBeals syndromeBeare-Stevenson cutis gyrata syndrome (BSTVS) FGFR2+delBeckwith-Wiedemann syndrome (BWS) CDKN1C+dup; NSD1 (=SOTOS)+delBenign hypermobility syndrome COL3A1+delBerardinelli syndrome BSCL2+delBerardinelli-Seip congenital lipodystrophy (BSCL) AGPAT2+del, BSCL2+del, CAV1, PTRFBeta-Galactosidase-1 (GLB1) deficiency GLB1+del+dupBicuspid aortic valve (BAV) NOTCH1+delBile acid synthesis defect, congenital, 3 (CBAS3)Biodefective growth hormone GH1+del+dupBlackfan-Diamond Syndrome; BDS Phase 1: Sequenzierung RPS19, RPL5, RPL11, RPS26, RPL35a

Phase 2: Deletionsanalyse der RP-Gene mittels Array-CGH Phase 3: Sequenzierung RPS10, RPS24, RPS7, RPL15, RPL26, RPL15, GATA1

Bladder cancer, somatic (BLC)Blepharophimosis, epicanthus inversus, and ptosis FOXL2+del+dup, TWIST1+delBlepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner typeBohring-Opitz syndrome Bone marrow failure, familial (BMFF)Bone marrow failure, telomere-related, 1

Bone modeling defect of hands and feetBoomerang dysplasiaBosley-Salih-Alorainy syndrome (BSAS)Brachydactyly, Haws typeBrachydactyly, type A1 (BDA1) Brachydactyly, type A2 (BDA2) GDF5 (=CDMP1), BMP2+del+dup, BMPR1BBrachydactyly, type B2 (BDB2)Brachydactyly, type C (BDC) Brachydactyly, type D (BDD) HOXD13+delBrachydactyly, type E (BDE) HOXD13+del

RNU4ATAC

TRPV4PAPSS2TRPV4COL4A1, COL4A2COL4A1, COL4A2

KRAS, AKT1PLOD2

JAK2

CD96

C8BC8BC8B

FGF23FGFR3BRAF, KRAS, MAP2K1 (=MEK1), MAP2K2 (=MEK2)

TPM1, TNNI3

CPT2CPT2CPT2RAB23

RMRPRMRPRMRP

FGFR3CBL

EDN3RNU4ATAC

CTC1TP63 (=p63)FGFR3BRAF, KRAS, MAP2K1 (=MEK1), MAP2K2 (=MEK2)

EBP (=CPX)IMPAD1CHST3 (=C6ST1)PTH1R (= PTHR)GDF5 (=CDMP1)

PAX6del, WT1delPAX6del, WT1del

NRXN1del

TRPS1delCOL4A5del NLRP3 (=NALP3)NLRP3 (=NALP3)LPIN2

Brachydactyly, type E1 (BDE1) HOXD13+delBrachydactyly-mental retardation syndrome (BDMR) HDAC4+delBrachydactyly-syndactyly syndrome (BDSD) HOXD13+del, MBOAT1+delBrachymelic primordial dwarfism Brachymesophalangy II GDF5 (=CDMP1), BMP2+del+dup, BMPR1BBrachyolmia, autosomal dominantBrachyolmia, autosomal recessiveBrachyrachia Brain small vessel disease with Axenfeld-Rieger anomaly Brain small vessel disease with hemorrhage (BSVDH) Brain tumor, posterior fossa, of infancy, familial) SMARCB1 (=INI1)+delBrain tumor-polyposis syndrome 1 (BTPS1 MLH1+del, MSH2+del, MSH6+del, PMS2+delBrain tumor-polyposis syndrome 2 APC+del+dupBreast cancer, somatic (BC)Bruck syndrome 2 (BRKS2) Brunzell syndrome AGPAT2+del, BSCL2+delBudd-Chiari syndrome, susceptibility to (BDCHS)Bulldog syndrome GPC3+del, GPC4del+dupC syndrome (CSYN) C1 esterase inhibitor, deficiency of SERPING1 (=C1NH)+delC8 beta deficiency C8 deficiency, type II C8B deficiencyCafe-au-lait spots with glioma or leukemia MLH1+delCafe-au-lait spots with pulmonic stenosis NF1+delCafe-au-lait spots, multiple, with leukemia (DD zu MMRCS) MSH2+delCaffey disease (CAFFD) COL1A1+delCalcinosis, tumoral, with hyperphasphatemiaCamptodactyly tall stature and hearing loss (CATSHL) syndromeCardiofaciocutaneous syndrome (CFCS) Cardiogenital syndrome LMNA+delCardiomyopathy, congestive, with hypergonadotropic hypogonadism LMNA+delCardiomyopathy, dilated LMNA+del, TNNI3, TPM1Cardiomyopathy, dilated, with hypergonadotropic hypogonadism LMNA+delCardiomyopathy, dilated, with premature ovarian failure LMNA+delCardiomyopathy, dilated, with primary testicular failure LMNA+delCardiomyopathy, familial hypertrophicCarney complex, type 1 (CNC1) PRKAR1A+delCarney myxoma-endocrine complex PRKAR1A+delCarney syndrome (CAR) PRKAR1A+delCarnitine palmitoyltransferase 2 deficiency, infantile (CPT2DI)Carnitine palmitoyltransferase 2 deficiency, late-onset (CPT2D)Carnitine palmitoyltransferase 2 deficiency, lethal neonatal (CPT2D-LN)Carpenter syndrome (CARPS) Carpenter-Waziri syndrome (CWS) ATRX+del+dup Cartilage-hair hypoplasia (CHH) Cartilage-hair hypoplasia variant, skeletal manifestations only (CHHV)Cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency Cataract with late-onset corneal dystrophy PAX6+delCatlin marks MSX2+delCATSHL syndrome (= camptodactyly tall stature and hearing loss syndrome)CBL syndromeCchondrodystrophy with sensineural deafness COL2A1+del, COL11A2Central hypoventilation syndrome, congenital (CCHS) Cephaloskeletal dysplasia Cerebelloparenchymal disorder VI (CPD6) PTEN+delCerebral creatine deficiency syndrome (CCDS) SLC6A8+del, GAMT, GATMCerebral gigantism NSD1 (=SOTOS)+del, NFIXCerebroretinal microangiopathy with calcifications and cysts (CRMCC) Cervical cancerCervical cancer, somatic (CERCA)CFC syndromeCharcot-Marie-Tooth disease LMNA+del, TRPV4Charcot-Marie-Tooth neuropathy LMNA+del, TRPV4CHARGE syndrome CHD7 (=KAL5)+delChondrodysplasia punctata, rhizomelic form (CDPR) PEX7+delChondrodysplasia punctata, X-linked dominant, 2 (CDPX2) Chondrodysplasia with joint dislocations, GPAPP type (CDP-GPAPP)Chondrodysplasia with multiple dislocations, CDMDChondrodysplasia, Blomstrand type (BOCD)Chondrodysplasia, Grebe typeChondrodystrophia calcificans punctata PEX7+delChondroectodermal dysplasia EVC (=EVC1)+del, EVC2+delChondrogenesis imperfecta COL2A1+delChondrosarcoma (CHDSA) EXT1+del (=TRPS2), EXT2+delChotzen syndrome FGFR2+del, TWIST1+delChromosome 10q23 deletion syndrome BMPR1A+del, PTEN+delChromosome 11p11.2 deletion Syndrome EXT2+del, ALX4Chromosome 11p13 deletion syndromeChromosome 11p13-p12 deletion syndromeChromosome 16p13.3 deletion syndrome CREBBP+delChromosome 2p16.3 deletion syndromeChromosome 2q37.2 deletion syndrome HDAC4+del

Chromosome 5q14.3 deletion syndrome MEF2C delChromosome 8q24.1 deletion syndromeChromosome Xq22.3 centromeric deletion syndromeChronic infantile neurologic cutaneous and articular syndrome (CINCA)Chronic neurologic cutaneous and articular syndrome Chronic recurrent multifocal osteomyelitis (CRMO), congenital dyserythropoietic anemia (CDA), and neutrophilic dermatosis (Sweet syndrome)

NLRP3 (=NALP3)

CD96HPGDCTC1

NLRP3 (=NALP3), NLRP12 (=NALP12)NLRP3 (=NALP3)NLRP3 (=NALP3)

MLH3, AKT1, APC, BRAF

GATA2

PTCH2

C8BC8BECSITBMP4

ACTA2NKX2-5NKX2-5EBP (=CPX)FBN2

TERT

FGF23HRASTBX15

CPT2CPT2CPT2SOST

TBX15

HPGD

SKI

GATMGAMT

FGFR3NLRP3 (=NALP3)HPGD

GDF5 (=CDMP1), NOG

Chudley-Lowry syndrome ATRX+del+dup Chylomicronemia, familial LPL+del+dupC-II Anapolipoproteinemia APOC2+delCINCA syndrome Cleft lip and/or palate with mucous cysts of lower lip IRF6+delCleft lip with or without cleft palate, nonsyndromic (CL/P) BMP4, IRF6+del, TP63 (=p63)Cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and geneital anomalies faciogenitopopliteal syndrome

IRF6+del

Cleidocranial dysostosis (CLCD) RUNX2+delCleidocranial dysplasia (CCD) RUNX2+delCleidocranial dysplasia with parietal foramina MSX2+delC-like syndrome (CLSYN) Clubbing of digitsCoats plus syndromeCoffin-Lowry syndrome (CLS) RPS6KA3 (=RSK2) +del+dupCold autoinflammatory syndrome, familial (FCAS) Cold urticaria, familial (FCU) Cold-induced autoinflammatory syndrome, familial (FCAS) Coloboma of iris, choroid, and retina (COI) = Coloboma, uveoretinal) PAX6+delColoboma of optic nerve (COLON) PAX6+delColoboma of optic nerve with renal disease PAX2+delColoboma, ocular (COLO) PAX6+delColoboma, uveoretinal PAX6+delColorectal cancer (CRC) CTNNB1, TP63 (=p63), EP300+del, SMAD4Colorectal cancer, hereditary nonpolyposis (HNPCC) MSH2+del, MLH1+del, PMS2+del, MSH6+del, TGFBR2+del, MLH3Colorectal cancer, somatic (CRC)Combined cellular and humoral immune defects with granulomas (CCHIDG) RAG1+del, RAG2+delCombined immunodeficiency with susceptibility to mycobacterial, viral, and fungal infections

Commissural cleft, isolated Complement component 4 (C4), partial deficiency of SERPING1 (=C1NH)+delComplement component 8 deficiency, type II (C8D2)Complement component 8B deficiency Complex I deficiency, mitochondrialCongenital 'healed' cleft lip (CHCL)Congenital hypothalamic hamartoma syndrome (CHHS) GLI3+del+dupCongenital mydriasisConotruncal anomaly face syndrome (CAFS) Conotruncal heart malformations, variable (CTHM)Conradi-Hunermann-Happle syndromeContractural arachnodactyly, congenital (CCA)Copper transport disease ATP7A+del+dupCornelia de Lange syndrome (CDLS) NIPBL+del, SMC1A (=SMC1L1)+del+dup , SMC3Coronary artery disease

Coronary artery disease, susceptiblity to (CAD) TERT+delCorpus callosum, agenesis of (ACC), with abnormal genitalia ARX+del+dupCortical dysplasia of Taylor (CDT) TSC1+delCortical dysplasia of Taylor with balloon cells (CDTBC) TSC1+delCortical dysplasia of Taylor without balloon cells TSC1+del

Cortical dysplasia of Taylor, dysplasia only (CDTD) TSC1+delCortical hyperostosis with hyperphosphatemiaCostello syndromeCousin syndrome (COUSS) Cowden disease (CD) PTEN+delCowden syndrome (CS) PTEN+delCPT deficiency, hepatic, type II CPT II deficiency, lethal neonatal CPT II deficiency, myopathic Craniodiaphyseal dysplasia, autosomal dominant (CDD)Cranioectodermal dysplasia (CED) IFT122, WDR35+del, IFT43Craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature Craniofacial dysostosis type I (CFD1) FGFR2+delCraniofacial-deafness-hand syndrome (CDHS) PAX3+delCraniofacial-skeletal-dermatologic dysplasia FGFR2+delCraniofrontonasal dysostosis EFNB1+del+dupCraniofrontonasal dysplasia (CFND) EFNB1+del+dupCraniofrontonasal syndrome (CFNS) EFNB1+del+dupCraniomandibular dermatodysostosis LMNA+delCranioosteoarthropathy (COA)Craniostenosis FGFR2+del, TWIST1+del, MSX2+delCraniosynostosis (CRS) FGFR2+del, TWIST1+del, MSX2+delCraniosynostosis with arachnodyctyly and abdominal hernias Craniosynostosis, metopic FGFR1+del (=KAL2)Craniosynostosis, midfacial hypoplasia, and foot anomalies FGFR1+del (=KAL2), FGFR2+delCranium bifidum occultum MSX2+delCranium bifidum, hereditary MSX2+delCreatine deficiency syndrome due to AGAT deficiencyCreatine deficiency syndrome due to GAMT deficiencyCreatine deficiency syndrome, X-linked SLC6A8+delCreatine transporter defect SLC6A8+delCrossed polydactyly, type I (CP1) GLI3+del+dupCrouzon syndrome (CS) FGFR2+delCrouzon syndrome with acanthosis nigricansCryopyrin-associated periodic syndrome (CAPS)Currarino idiopathic osteoarthropathy (CIO)Curry-Hall syndrome EVC (=EVC1)+del, EVC2+delCushing symphalangismCushing syndrome, adrenal, due to PPNAD1 PRKAR1A+delCutis laxa with progeroid features PYCR1+del

SLC26A2 (=DTDST)

MYO6GJB2 (=CX26), MYO6, COL11A2

GATA2

PTH1R (= PTHR)

KRT14

KCNJ11

WFS1

KCNJ11

SLC26A2 (=DTDST)SLC26A2 (=DTDST)HPGDDLD (=LAD)NR5A1

DLD (=LAD)NKX2-5

GDF5 (=CDMP1)

IDH1, IDH2, PTH1R (= PTHR)

DKC1, TRC, TERT, TINF2, RTEL1, NOP10, NHP2, CTC1, C16orf57

DLD (=LAD)WNT10ATP63 (=p63)TP63 (=p63)WNT10A

WNT10BTP63 (=p63)TP63 (=p63)

FKBP14

B4GALT7, B3GALT6

Cutis laxa, autosomal dominant, 1 (ADCL1) ELN+delCutis laxa, autosomal recessive (ARCL) ATP6V0A2+del, PYCR1+delCutis laxa, X-linked, formerly ATP7A+del+dupCytochrome P450 oxidoreductase deficiency POR+delCzech dysplasia COL2A1+delD-2-Hydroxyglutaric aciduria (D2HGA) D2HGDH+del, IDH2Danon disease (DAND) LAMP2+delDappled metaphysis syndrome COL2A1+delD-bifunctional protein deficiency (DBPD) HSD17B4+del (= DBP)De Barsy Syndrome B PYCR1+delDe la Chapelle dysplasia (DLCD)Deafness, autosomal dominant (DFNA) GJB2 (=CX26), WFS1+del, COL11A2, MYO6Deafness, autosomal dominant 22 (DFNA22), with hypertrophic cardiomyopathyDeafness, autosomal recessive Deafness, congenital heart defects, and posterior embryotoxon JAG1+del+dupDeafness, sensorineural, with imperforate anus and thumb anomalies SALL1+delDefect11 syndrome EXT2+del, ALX4Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency (DCML)

Dental anomalies, isolated RUNX2+delDental noneruptionDenys-Drash syndrome (DDS) WT1+delDermatopathia pigmentosa reticularis (DPR)Desbuquois dysplasia (DBQD) CANT1+del, XYLT1Desmoid disease, hereditary (HDD) APC+del+dupDesmoplastic small round cell tumor (DSRCT) WT1+delDevelopmental delay, epilepsy, and neonatal diabetes (DEND)Diabetes insipidus and mellitus with optic atrophy and deafness (DIDMOAD) WFS1+delDiabetes mellitus, noninsulin-dependent (NIDDM) ABCC8+delDiabetes mellitus, noninsulin-dependent (NIDDM), association withDiabetes mellitus, permanent neonatal (PNDM) ABCC8+del, KCNJ11Diabetes mellitus, permanent neonatal, with neurologic features Diabetes mellitus, permanent, of infancy (PDMI) ABCC8+del, KCNJ11Diabetes mellitus, transient neonatal ABCC8+del, KCNJ11Diamond-Blackfan Anemia (DBA) Phase 1: Sequenzierung RPS19, RPL5, RPL11, RPS26, RPL35a

Phase 2: Deletionsanalyse der RP-Gene mittels Array-CGH Phase 3: Sequenzierung RPS10, RPS24, RPS7, RPL15, RPL26, RPL15, GATA1

Diastrophic dysplasia (DTD)Diastrophic dysplasia, broad bone-platyspondylic variant (DTDB)Digital clubbing, isolated congenital Dihydrolipoamide dehydrogenase deficiency (DLDD) Disorder of sex development, 46,XYDisordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD)

POR+del

Disordered steroidogenesis due to POR deficiency POR+delDLD deficiency Double-outlet right ventricle (DORV) Drash syndrome WT1+delDu Pan syndrome (DPS)Dwarfism of Sindh GHRHR, GH1+del+dupDyggve-Melchior-Clausen disease (DMC) DYM+dupDyschondroplasiaDyschondrosteosis (DCO) SHOX+del Dyschondrosteosis, homozygous SHOX+del Dyskeratosis congenita

Dysplasia gigantism syndrome, X-linked (DGSX) GPC3+del, GPC4del+dupDysplastic gangliocytoma of the cerebellum PTEN+delDyssegmental dysplasia, Silverman-Handmaker type (DDSH) HSPG2+delE3 deficiency Eccrine tumors with ectodermal dysplasiaEctodermal dysplasia Rapp-Hodgkin type (EDRH) Ectodermal dysplasia, anhidrotic, with cleft lip/palateEctodermal dysplasia, hypohidrotic/anhidroticEctodermal dysplasia, hypohidrotic/anhidrotic, with immune deficiency IKBKG (=NEMO)+delEctopia lentis, familial (EL) FBN1+delEctopia lentis, isolated, autosomal dominant FBN1+delEctopia pupillae PAX6+delEctrodactyly, autosomal recessiveEctrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) EEC syndrome 3Ehlers-Danlos syndrome gravis COL1A1+delEhlers-Danlos syndrome type I (EDS1) COL1A1+delEhlers-Danlos syndrome type VII, autosomal dominant COL1A1+delEhlers-Danlos syndrome type VIIA (EDS7A) COL1A1+delEhlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss (EDSKMH)

Ehlers-Danlos syndrome, arterial type COL3A1+delEhlers-Danlos syndrome, arthrochalasia type COL1A1+del, COL1A2+delEhlers-Danlos syndrome, cardiac valvular form (EDSCV) COL1A2+delEhlers-Danlos syndrome, ecchymotic type COL3A1+delEhlers-Danlos syndrome, gravis type COL5A1+del+dup, COL5A2Ehlers-Danlos syndrome, hypermobility type COL3A1+delEhlers-Danlos syndrome, kyphoscoliotic type PLOD1+del+dupEhlers-Danlos syndrome, mild classic type COL5A1+del+dupEhlers-Danlos syndrome, mitis type COL5A1+del+dupEhlers-Danlos syndrome, occipital horn type, formerly ATP7A+del+dupEhlers-Danlos syndrome, ocular-scoliotic type PLOD1+del+dupEhlers-Danlos syndrome, progeroid form (EDSP) Ehlers-Danlos syndrome, Sack-Barabas type COL3A1+del

PTH1R (= PTHR)PTH1R (= PTHR)

GATA2

CPT2

IDH1, IDH2, PTH1R (= PTHR)

FOXI1KRASKRT14KRT14KRT14KRT14KRT14KRT14

SLC26A2 (=DTDST)

JAK2TGFBR2

ETFBETFDH

GNRH1FLI1

TINF2

HRAS

PTH1R (= PTHR)

HPGDSLC34A1

GNRHR

MED12MED12

ACVR1SOS1SOS1CREB3L2WNT7AGDF5 (=CDMP1)KCTD1SRCAP

SLC46A1

MYH3TNNT3, TNNI2, TPM2ALX4

WNT7A

Ehlers-Danlos syndrome, severe classic type COL5A1+del+dup, COL5A2Ehlers-Danlos syndrome, type I (EDS I) (EDS1) COL5A1+del+dup, COL5A2Ehlers-Danlos syndrome, type II (EDS II) (EDS2) COL5A1+del+dupEhlers-Danlos syndrome, type III (EDSIII; EDS3) COL3A1+delEhlers-Danlos syndrome, type IV, autosomal dominant (EDS IV; EDS4) COL3A1+delEhlers-Danlos syndrome, type IX (EDS IX) (EDS9), formerly ATP7A+del+dupEhlers-Danlos syndrome, type VI (EDS6) (EDS VI) PLOD1+del+dupEhlers-Danlos syndrome, type VIA, formerly (EDS6A, formerly) PLOD1+del+dupEhlers-Danlos syndrome, type VIIB (EDS7B) COL1A2+delEhlers-Danlos syndrome, vascular type COL3A1+delEiken skeletal dysplasia (EISD) Eiken syndrome Ellis-van Creveld syndrome (EVC) EVC (=EVC1)+del, EVC2+delEmberger syndromeEmery-Dreifuss muscular dystrophy (EDMD) (EMD) LMNA+delEncephalopathy, acute, infection-induced, 4, susceptibility to (IIAE4)Encephalopathy, neonatal severe MECP2+del Enchondromatosis, multiple, Ollier type (ENCHOM)Endometrial cancer (ENDMC), susceptibility to MLH1+del, MSH2+delEndometrial cancer, familial (ENDMC) MLH3, MSH6+delEndometrial cancer, somatic (ENDMC) PTEN+delEnlarged vestibular aqueduct (EVA)Epidermal nevus syndrome, formerlyEpidermolysis bullosa simplex Dowling-Meara type (EBS-DM)Epidermolysis bullosa simplex Koebner type (EBS-K) Epidermolysis bullosa simplex Weber-Cockayne type (EBS-WC) Epidermolysis bullosa simplex, autosomal recessive (AREBS)Epidermolysis bullosa simplex, generalized (EBS generalized)Epidermolysis bullosa simplex, localizedEpileptic encephalopathy, early infantile (EIEE) ARX+del+dup, CDKL5+del+dupEpiphyseal dysplasia, Fairbank type (EDMF) COMP+delEpiphyseal dysplasia, multiple, autosomal dominant (EDM) COMP+del, MATN3, COL9A1, COL9A2, COL9A3Epiphyseal dysplasia, multiple, autosomal recessive (EDM)Epiphyseal dysplasia, multiple, with myopia and deafness (EDMMD) COL2A1+delEpiphyseal dysplasia, Ribbing type (EDMR) COMP+delErythrocytosis, autosomal recessive benign VHL+delErythrocytosis, familial, 2 (ECYT2) VHL+delErythrocytosis, somaticEsophageal cancer, somaticESS1, formerly TGFBR1+dupETFA deficiency ETFA+delETFB deficiencyETFDH deficiencyEthylmalonic-adipicaciduria (EMA) ETFA+del, ETFBEunuchoidism, familial hypogonadotropic Ewing sarcoma (ES) Exomphalos-Makroglossia-Gigantism syndrome (EMGS) CDKN1C+dup; NSD1 (=SOTOS)+delExostoses, multiple, type (EXT) EXT1+del (=TRPS2), EXT2+delExudative retinopathy with bone marrow failure (ERBMF)Fabry disease GLA+del Fabry disease, cardiac variant GLA+del Facioauriculovertebral sequence (FAVS) TCOF1+delFaciocutaneoskeletal syndrome (FCSS)Faciogenital dysplasia (FGDY) FGD1+del Failure of tooth eruption, primary (PFE) Familial atypical cold urticaria (FACU) PLCG2 (nur del)Familial cold autoinflammatory syndrome 3 (FCAS3) PLCG2 (nur del)Familial combined hyperlipidemia LPL+del+dupFamilial idiopathic osteoarthropathy of childhood Fanconi renotubular syndrome 2 (FRTS2)Female Pseudo-Turner syndrome PTPN11+dupFerguson-Smith type epithelioma TGFBR1+dupFertile eunuch syndromeFetal hypokinesia sequence due to restrictive dermopathy LMNA+delFG syndrome (FGS) FG syndrome 1 (FGS1) Fibrochondrogenesis COL11A1+delFibrodysplasia ossificans progressiva (FOP)Fibromatosis, gingival, 1 (GINGF1) (GINGF) (GGF1) Fibromatosis, gingival, hereditary (HGF)Fibromyxoid sarcoma, low grade (LGFMS)Fibular aplasia or hypoplasia femoral bowing and poly- syn- and oligodactylyFibular hypoplasia and complex brachydactylyFinlay-Marks syndrome Floating-Harbor syndrome (FLHS)Focal cortical dysplasia of Taylor (FCDT) TSC1+delFocal cortical dysplasia, type II TSC1+delFocal dermal hypoplasia (FODH) PORCN+delFolate malabsorption, hereditary (HFM) Foramina parietalia permagna (FPP) ALX4, MSX2+delFoveal hypoplasia and presenile cataract syndrome PAX6+delFoveal hypoplasia with anterior segment anomalies or isolated PAX6+delFrasier syndrome (FS) WT1+delFreeman-Sheldon syndrome (FSS)Freeman-Sheldon syndrome variant (FSSV)Frontonasal dysplasia type 2 (FND2)Fructose intolerance, hereditary (HFI) ALDOB+delFuhrmann syndrome (FUHRS) Furlong syndrome TGFBR1+dup

B4GALT7

KITGATA2

GATM

GORAB (=SCYL1BP1)GORAB (=SCYL1BP1)FLNB

IDH1

ETFBETFDH

C7orf10C7orf10G6PC

GM1-gangliosidosis

N.N.

TSPY1 (=TSPY)GNRH1

XYLT1

SMAD4GAMTHMGA2COL4A1, COL4A2

TP63 (=p63)TP63 (=p63)COL9A3

ANTXR1 (=TEM8)FLI1COL4A3, COL4A4

COL4A1, COL4A2COL4A1

CTNNB1

CTNNB1GDF5 (=CDMP1), NOGTRPV4

EDN3

Holoprosencephaly-7 (HPE7)

CHST3 (=C6ST1)HRAS

KIF7HYP

SLC34A3

KCNJ11

Galactose-1-phosphate uridylyltransferase deficiency GALT+delGalactosemia GALT+delGalactosyltransferase I deficiency, XGPT deficiencyGALT deficiency GALT+delGangliosidosis, generalized GM1 GLB1+del+dupGardner syndrome (GS) APC+del+dupGastric cancer, somatic APC+del+dup, FGFR2+del, KRASGastrointestinal stromal tumor, familial (GIST)GATA2 deficiency (MonoMAC (monocytopenia, NK- and B- lymphocytopenia, severe infections with M. avium complex (MAC), and risk of progression to MDS/AML))

GATM deficiency Geleophysic dysplasia (GLPD) ADAMTSL2, FBN1+delGenital anomaly with cardiomyopathy LMNA+delGeroderma osteodysplastica Geroderma osteodysplasticum (GO) Giant cell chondrodysplasia Gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly AKT1, PTEN+delGillespie syndrome (GS) PAX6+delGLA deficiency GLA+del Glioma (GLM)Glioma susceptibility 2 (GLM2) PTEN+delGlutaric acidemia II (GA2) ETFDH, ETFA+del, ETFBGlutaric acidemia IIA ETFA+delGlutaric acidemia IIB Glutaric acidemia IIC (GA2C) Glutaric aciduria II (GA2) ETFDH, ETFA+del, ETFBGlutaric aciduria III (GA3) Glutaryl-CoA oxidase deficiencyGlycogen storage disease Ia (GSD1A) Glycogen storage disease type 2B (GSD2B), formerly LAMP2+del

GLB1+del+dupGolabi-Rosen syndrome GPC3+del, GPC4del+dupGoldblatt syndromeGoldenhar syndrome TCOF1+delGoltz syndrome PORCN+delGoltz-Gorlin syndrome PORCN+delGonadoblastoma (GBY)Gonadotropin deficiency, familial idiopathic (FIGD)Gorlin syndrome PTCH1+delGorlin-Goltz syndrome PTCH1+delGreig cephalopolysyndactyly syndrome (GCPS) GLI3+del+dupGronblad-Strandberg syndrome, modifier of severity ofGrowth hormone deficiency with pituitary anomalies HESX1+delGrowth hormone deficiency, isolated GHRHR, GH1+del+dupGrowth-mental deficiency syndrome of MyhreGuanidinoacetate methyltransferase (GAMT) deficiency Hamartomas, pulmonary chondroidHANAC syndrome (Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps)

Hanhart dwarfism PROP1+delHappy puppet syndrome, formerly UBE3A+delHauptmann-Thannhauser muscular dystrophy LMNA+delHay-Wells syndrome Head cancerHearing loss, non-syndromicHearing loss, progressive, with optic atrophy and/or impaired glucose regulation WFS1+delHeart-hand syndrome TBX5+del+dupHeart-hand syndrome, Slovenian type LMNA+delHemangioblastoma, cerebellar, somatic VHL+delHemangioma, capillary infantile, susceptibility to (HCI)HemangiomatosisHematuria, benign familial (BFH) Hemifacial microsomia (HFM) TCOF1+delHemiparesis, and leukoencephalopathy, autosomal dominantHemiplegia, infantile, with porencephaly, type 1 (T1P) Hemoglobin H disease, acquired ATRX+del+dup HepatoblastomaHepatoblastoma, somatic APC+del+dupHepatocellular carcinoma (HCC)Hereditary absence of the proximal interphalangeal (PIP) joints Hereditary motor and sensory neuropathy, type IIc (HMSN2C) Heredopathia atactica polyneuritiformis PEX7+delHFE hemochromatosis, modifier of BMP2+del+dupHippel-Lindau disease (VHLD) VHL+delHirschsprung disease, susceptibility to, 4 (HSCR4) Holmes-Gang syndrome ATRX+del+dup

PTCH1+delHolt-Oram syndrome (HOS) (HOS1) TBX5+del+dupHumerospinal Dysostosis, HSD Hurthle cell thyroid carcinoma (HCTC) Hutchinson-Gilford progeria syndrome (HGPS) LMNA+delHydranencephaly with abnormal genitalia ARX+del+dupHydrolethalus syndrome 2

PHEX+del+dupHypercalciuric ricketsHyperchylomicronemia, familial LPL+del+dupHyperekplexia, hereditary 1 (HKPX1) GLRA1+delHyperinsulinemic hypoglycemia, familial (HHF) ABCC8+del, KCNJ11Hyperinsulinism, congenital

MAT1A

TNFRSF11B (=OPG)SOSTFGF23SOSTSOSTFGF23

SOSTTNFRSF11B (=OPG)

NPR3THRBTHRB

HPGD

FGFR3

GNRHR

SLC34A3

NKX2-5NKX2-5

NKX2-5GJB2 (=CX26)ERCC3 (=XPB)

ERCC3 (=XPB)ERCC3 (=XPB)

DNMT3B

COL4A1, COL4A2

ANTXR2 (=CMG2)

PTPN1NKX2-5COL9A2, COL9A3

IVD

KRASPTH1R (= PTHR)WDR34, IFT80KIF7, TCTN3SMAD4

JPS/HHT SMAD4

ANTXR2 (=CMG2)

SMAD4

Hyperkeratosis-contracture syndrome LMNA+delHyperlipemia LPL+del+dupHyperlipidemia, familial combined (FCHL) LPL+del+dupHyperlipoproteinemia LPL+del+dup, APOC2+delHypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency

Hypernephroma VHL+delHyperostosis corticalis deformans juvenilisHyperostosis corticalis generalis Hyperostosis with Hyperphosphatemia Hyperostosis, cortical, with syndactylyHyperostosis, endosteal, autosomal recessiveHyperostosis-Hyperphosphatemia syndrome (HHS) Hyperphenylalaninemia, mild (HPA, mild) PAH+delHyperphenylalaninemia, non-PKU mild (= HPA) PAH+delHyperphosphatasemia tardaHyperphosphatasiaHypertelorism with esophageal abnormality and hypospadias MID1+del+dupHypertelorism-hypospadias syndrome MID1+del+dupHypertension, salt-resistant (?)Hyperthyroidism, familial, due to inappropriate thyrotropin secretionHyperthyroxinemia, familial euthyroid, secondary to pituitary and peripheral resistance to thyroid hormones

Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 (PHOAR1) Hypochondrogenesis COL2A1+delHypochondroplasiaHypoglycemia of infancy, leucine-sensitive ABCC8+delHypogonadism with spermatogenesisHypogonadotropic hypogonadism with or without anosmia (HH) KAL1, FGFR1 (= KAL2), PROKR2, PROK2, CHD7, FGF8, GNRHR, KISS1R,

NSMF (= NELF), TAC3, TACR3, GNRH1, KISS1, WDR11, HS6ST1, SEMA3A, SPRY4, IL17RD, DUSP6, FGF17, FLRT3, NR5A1, PIN1

Hypophosphatasia (HOPS) ALPL (=TNSALP)+delHypophosphatemia PHEX+del+dup; FGF23Hypophosphatemic rickets PHEX+del+dup; FGF23Hypophosphatemic rickets with hypercalciuria (HHRH) Hypophosphatemic Vitamin D-resistant rickets (HPDR) PHEX+del+dupHypoplastic left heart syndrome 2 (HLHS2)Hyposplenia, isolated congenital Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly

GLI3+del+dup

Hypothalamic hamartomas, somatic GLI3+del+dupHypothyroidism, congenital nongoitrous, 5 (CHNG5)Hystrix-like ichthyosis with deafness (HID syndrome)IBIDS syndromeI-cell disease (ICD) GNPTAB+del+dupIchthyosiform erythroderma with hair abnormality and mental and growth retardationIchthyosis, congenital, with trichothiodystrophy Idiopathic hypogonadotropic hypogonadism KAL1, FGFR1 (= KAL2), PROKR2, PROK2, CHD7, FGF8, GNRHR, KISS1R,

NSMF (= NELF), TAC3, TACR3, GNRH1, KISS1, WDR11, HS6ST1, SEMA3A, SPRY4, IL17RD, DUSP6, FGF17, FLRT3, NR5A1, PIN1

Idiopathic scoliosis 3, susceptibility to (IS3) CHD7 (=KAL5)+delIllig-type growth hormone deficiency GH1+del+dupIMAGE (Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies) syndrome

CDKN1C+dup

Immunodeficiency, isolated IKBKG (=NEMO)+delImmunodeficiency, severe combined, with hypereosinophilia DCLRE1C (=ARTEMIS)+del, RAG1+del, RAG2+delImmunodeficiency-centromeric instability-facial anomalies syndrome (ICF1)Inclusion cell disease (ICD) GNPTAB+del+dupIncontinentia pigmenti (IP) IKBKG (=NEMO)+delIncontinentia pigmenti, type II, formerly (IP2, formerly) IKBKG (=NEMO)+delInfantile cortical hyperostosis COL1A1+delInfantile epileptic-dyskinetic encephalopathy ARX+del+dupInfantile hemiparesis Infantile spasm syndrome, X-linked (ISSX) ARX+del+dup, CDKL5+del+dupInfantile systemic hyalinosis (ISH)Infiltrative fibromatosis, familial (FIF) APC+del+dupInsulin resistance, susceptibility toInterrupted aortic archIntervertebral disc disease (IDD), susceptibility toInvasive pneumococcal disease, recurrent isolated, 2 (IPD2) IKBKG (=NEMO)+delIridogoniodysgenesis (IRID) PITX2+delIridogoniodysgenesis syndrome (IGDS) PITX2+delIris hypoplasia and glaucoma PITX2+delIsovaleric acidemia (IVA) Jackson-Weiss syndrome (JWS) FGFR1+del (=KAL2), FGFR2+delJadassohn nevus phakomatosis (JNP) Jansen metaphyseal chondrodysplasia (JMC) Jeune syndromeJoubert syndrome (JBTS)JP/HHT syndrome

Juberg-Marsidi syndrome (JMS) ATRX+del+dup (bei Frauen)Juvenile hyaline fibromatosis (JHF) Juvenile intestinal polyposis (JIP) BMPR1A+delJuvenile polyposis coli BMPR1A+delJuvenile polyposis of infancy BMPR1Adel, PTEN+delJuvenile polyposis of stomach BMPR1A+delJuvenile polyposis syndrome (JPS) BMPR1A+del, SMAD4, PTEN+delJuvenile polyposis with hereditary telangiectasia

SMAD4

MED12

GJB2 (=CX26)GJB2 (=CX26)WNT10AFGFR3

GDF6

FLNBCHST3 (=C6ST1)PTCH2WNT10AWNT10A

PC

HMGA2

GATA1

GJC2COL4A1, COL4A2

WNT7ATP63 (=p63)KRAS

DLD (=LAD)

FGF23

LMNB2

LMNB2LMNB2

HMGA2

HMGA2HMGA2

RNU4ATAC

MED12

TP63 (=p63)CHRNA3STK11KRAS

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JPHT) Kallmann syndrome (-> Hypogonadotropic hypogonadism)Keller syndromeKeratitis, hereditary (KERH) PAX6+delKeratitis-ichthyosis-deafness syndrome (KID syndrome)Keratoderma, palmoplantar, with deafness (PPKDFN)Keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis Keratosis, seborrheic, somaticKinky hair disease ATP7A+del+dupKlein-Waardenburg syndrome PAX3+delKlippel-Feil syndrome 1, autosomal dominant (KFS1)Kniest dysplasia (KD) COL2A1+delKowarski syndrome (KWKS) GH1+del+dupL-2-Hydroxyglutaric acidemia (L2HGA) L2HGDH+delL-2-Hydroxyglutaric aciduria (L2HGA) L2HGDH+delLacrimoauriculodentodigital syndrome (LADDS) FGFR3, FGF10+del, FGFR2+delLADD syndrome (LADDS) FGFR3, FGF10+del, FGFR2+delLamb syndrome PRKAR1A+delLanger mesomelic dysplasia (LMD) SHOX+del Langer-Giedion syndrome (LGS) EXT1+del (=TRPS2), TRPS1delLarsen syndrome (LRS), autosomal dominantLarsen syndrome, autosomal recessiveLateral cleft, isolated Lateral incisors, absence of Lateral incisors, pegged or missingLegg-Calve-Perthes disease (LCPD; LCP) COL2A1+delLeigh syndrome due to pyruvate carboxylase deficiencyLeiomatosis, diffuse, with Alport syndrome (DL-ATS) COL4A5+del Leiomatosis, esophageal and vulval, with nephropathy COL4A5+del Leiomyoma, uterine, somatic (UL)Lentiginosis, cardiomyopathic PTPN11+del+dup, RAF1+dup, BRAFLenz microphthalmia syndrome (LMS) BCOR+delLEOPARD syndrome PTPN11+del+dup, RAF1+dup, BRAFLeri-Weill dyschondrosteosis (LWD) SHOX+del (erst Del dann Seq)Lethal short-limbed platyspondylic dwarfism, Torrance type COL2A1+delLeukemia, acute lymphoblastic (ALL) FLI1, LHX4+delLeukemia, acute lymphocytic FLI1, LHX4+delLeukemia, acute myelogenous (AML) TRIP11, JAK2, CREBBP+del, IDH1, NSD1 (=SOTOS)+del, KIT, KRAS,

EP300+del, TERT, GATA2, RUNX1, CEBPA

Leukemia, acute myeloid TRIP11, JAK2, CREBBP+del, IDH1, NSD1 (=SOTOS)+del, KIT, KRAS, EP300+del, TERT, GATA2, RUNX1, CEBPA

Leukemia, acute T-cell lymphoblastic NOTCH1+del, SETBP1Leukemia, juvenile myelomonocytic (JMML) NF1+del, PTPN11Leukemia, megakaryoblastic, with or without Down syndrome, somatic

Leukodystrophy, hypomyelinating, 2 (HLD2) Leukoencephalopathy with Axenfeld-Rieger anomalyLevy-Hollister syndrome FGFR3, FGF10+del, FGFR2+delLhermitte-Duclos syndrome (LDD) PTEN+del

Limb/pelvis-hypoplasia/aplasia syndrome (LPHAS) Limb-mammary syndrome (LMS)Linear sebaceous nevus syndrome Lipase D deficiency LPL+del+dupLipoamide dehydrogenase deficiency, lactic acidosis due to Lipoatrophic diabetes LMNA+del, BSCL2+delLipocalcinogranulomatosis Lipodystrophy, Berardinelli-Seip congenital BSCL2+del, CAV1, PTRFLipodystrophy, cephalothoracic type Lipodystrophy, congenital generalized (CGL) AGPAT2+del, BSCL2+del, CAV1, PTRFLipodystrophy, familial partial, Dunnigan type LMNA+delLipodystrophy, familial partial, type 2 (FPLD2) (FPL2) LMNA+delLipodystrophy, familial, of limbs and lower trunk LMNA+delLipodystrophy, partial, acquired, susceptibility to (APLD) (APLD), susceptibility to Lipodystrophy, partial, progressiveLipodystrophy, reverse partial LMNA+delLipodystrophy, total, and acromegaloid gigantism BSCL2+delLipodystrophy, type A, associated with mandibuloacral dysplasia LMNA+delLipoma (LIPO)Lipomatosis of pancreas, congenital SBDS+delLipomatosis, familial multiple (FML) Lipomatosis, multiple Lipoprotein lipase deficiency LPL+del+dupLip-pit syndrome (LPS=PIT) IRF6+delLissencephaly, X-linked 2 (LISX2) ARX+del+dupLissencephaly, X-linked, with ambiguous genitalia (XLAG) (XLISG) ARX+del+dupLobular carcinoma in situ (LCIS) MLH1+delLoeys-Dietz syndrome (LDS) TGFBR1+dup, TGFBR2, SMAD3, TGFB2+delLow-birth-weight dwarfism with skeletal dysplasiaLPL deficiency LPL+del+dupLujan-Fryns syndrome Lumbar disc herniation (LDH), susceptibility to COL11A1+del, MMP9Lung cancerLung cancer susceptibility 2 (LNCR2)Lung cancer, non-small cell (NSCLC)Lung cancer, somaticLymphangioleiomyomatosis (LAM) (Lymphangiomatosis) TSC1+del, TSC2+delLymphedema and yellow nails (LYYN) FOXC2+delLymphedema with distichiasis (LYD) FOXC2+delLymphedema, hereditary (LMPH) GJC2, FOXC2+delLymphedema-distichiasis syndrome (LYDS) FOXC2+del

PTCH2IDH1, IDH2LPIN2KIT

DLD (=LAD)

SKISKI

NFIX

KITKIT

CTNNB1

TERT

STK11

MEF2C MED12

MEF2C

MED12

CTNNB1

MMP13, MMP9PTH1R (= PTHR)RMRPPTH1R (= PTHR)COL10A1IDH1, IDH2

RMRPTRPV4TRPV4MAT1AMMACHCMMACHCMMACHCRNU4ATAC

VAX1SIX6

BMP4SIX6GDF6SIX6GDF6

Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus FOXC2+delLynch syndome MSH2+del, MLH1+del, PMS2+del, MSH6+del, TGFBR2+del, MLH3Lysosomal glycogen storage disease without acid maltase deficiency, formerly LAMP2+delMacrocephaly/autism syndrome (MCEPHAS) PTEN+delMacrostomia, isolated Maffucci syndrome (= Enchondromatosis, multiple, Maffucci type)Majeed syndrome (MAJEEDS) Male germ cell tumor (MGCT)Male Turner snydrome PTPN11+dupMalignant rhabdoid tumor, somatic (MRT) SMARCB1 (=INI1)+delMalouf syndrome LMNA+delMandibuloacral dysplasia with type A lipodystrophy (MADA) LMNA+delMandibuloacral dysplasia with type A lipodystrophy, atypical LMNA+delMandibulofacial dysostosis (MFD1) TCOF1+delMaple syrup urine disease, type IIIMarfan syndrome (MFS) FBN1+delMarfan syndrome, atypical COL1A2+delMarfanoid craniosynostosis syndromeMarfanoid disorder with craniosynostosis, type I Marshall syndrome (MARSHS) COL11A1+delMarshall-Smith syndrome (MSS)MASS syndrome FBN1+delMast cell disease MastocytosisMeacham syndrome (MEACHS) WT1+delMECP2 duplication syndrome MECP2+del Medium chain Acyl-CoA dehydrogenase deficiency (MCAD) ACADM (=MCAD)+delMedulloblastoma (MDB)Medulloblastoma (MDB), somatic APC+del+dup, PTCH1+del, PTCH2Medulloblastoma with extensive nodularity (MBEN) SUFU+delMedulloblastoma, desmoplastic (MDB, desmoplastic) SUFU+delMeige disease FOXC2+delMeige lymphedema FOXC2+delMelanoma, cutaneous malignant, 9

Melanoma, desmoplastic neurotrophic (DNM) NF1+delMelanoma, malignant sporadic Melanoma, malignant, somatic BRAF, PTEN+delMeningioma PTEN+delMenkes disease (MK) (MNK) ATP7A+del+dupMenkes syndrome ATP7A+del+dupMental retardation and muscular atrophy SLC16A2 (=MCT8)+delMental retardation, autosomal dominant 20 (MRD20) Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformationsMental retardation, X-linked 19 (MRX19) RPS6KA3 (= RSK2) +del+dupMental retardation, X-linked 29/32/33/38/43/54/76/87 ARX+del+dupMental retardation, X-linked 36 (MRX36) ARX+del+dupMental retardation, X-linked syndromic 1 (MRXS1) ARX+del+dupMental retardation, X-linked syndromic 13 (MRXS13) MECP2+del Mental retardation, X-linked syndromic 16 (MRXS16) FGD1+del Mental retardation, X-linked syndromic, Lubs type (MRXSL) MECP2+delMental retardation, X-linked, with creatine transporter deficiency SLC6A8+delMental retardation, X-linked, with dystonic movements, ataxia, and seizures ARX+del+dupMental retardation, X-linked, with growth retardation, deafness, and microgenitalism ATRX+del+dupMental retardation, X-linked, with hypotonia SLC16A2 (=MCT8)+delMental retardation, X-linked, with marfanoid habitusMental retardation, X-linked, with or without seizures, ARX-related (MRXARX) ARX+del+dupMental retardation, X-linked, with seizures, short stature, and midface hypoplasia SLC6A8+delMental retardation-hypotonic facies syndrome, X-linked (MRXHF1) ATRX+del+dup Mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type SHOX+del Mesothelioma, malignant; susceptibility to (MESOM)Mesothelioma, somatic (MESOM) WT1+delMetachondromatosis (METCDS) PTPN11+del+dupMetaphyseal anadysplasia (MANDP) Metaphyseal chondrodysplasia, Jansen typeMetaphyseal chondrodysplasia, McKusick typeMetaphyseal chondrodysplasia, Murk Jansen typeMetaphyseal chondrodysplasia, Schmid type (MCDS) Metaphyseal chondromatosis with urinary excretion of D-2-hydroxy-glutaric acid (MC-HGA)

Metaphyseal dysplasia without hypotrichosis Metatropic dwarfism (MD)Metatropic dysplasia (MTD) Methionine adenosyltransferase (MAT) deficiency, autosomal recessiveMethylmalonic acidemia and homocystinuria, cblC type Methylmalonic aciduria and homocystinuria, cblC type Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive Microcephalic osteodysplastic primordial dwarfism, type I (MOPD1) (MOPD I) (MOPD)

Microcephalic osteodysplastic primordial dwarfism, type II (MOPD2) PCNT (=MOPD2)+delMicrophthalmiaMicrophthalmia and cataract 2 Microphthalmia and esophageal atresia syndrome SOX2+delMicrophthalmia with brain and digital anomaliesMicrophthalmia, cataract, and nystagmusMicrophthalmia, isolated 4 (MCOP4)Microphthalmia, isolated, with cataract 2 (MCOPCT2)Microphthalmia, isolated, with coloboma 6, digenic (MCOPCB6)Microphthalmia, syndromic (MCOPS) BCOR+del, SOX2+del, OTX2+del, BMP4

VEGFA

TCTN3

GATA2GATA2

GATA2

FGF23

ACTA2NLRP3 (=NALP3)

FGFR3

WNT4WNT4MAFBMAFBMMP14, MMP2ETFDH, ETFA, ETFB

FGFR3

NOG, GDF5 (=CDMP1), FGF9NLRP3 (=NALP3)ACTA2

GATA2MLP (=C-MLP)JAK2CXCR4SMAD4HRAS

KRT14KRT14

HOXA1TP63 (=p63)TPM2

SLC34A1

KCNJ11SPINK5SPINK5

KRASFGFR3MMP14, MMP2VEGFABRAF

Microvascular complications of diabetes, susceptibility to, 1 (MVCD1) Mismatch repair cancer syndrome (MMRCS) MLH1+del, MSH2+del, MSH6+del, PMS2+delMohr-Majewski syndrome Mohr-Wriedt type brachydactyly GDF5 (=CDMP1), BMP2+del+dup, BMPR1BMonocarboxylate transporter 8 (MCT8) deficiency SLC16A2 (=MCT8)+delMonocytopenia and mycobacterial infection syndrome (MONOMAC) Monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia

MonoMAC (monocytopenia, NK- and B- lymphocytopenia, severe infections with M. avium complex (MAC), and risk of progression to MDS/AML) (GATA2 deficiency)

Morbus Teutschlaender Morning glory disc anomaly PAX6+delMorquio A syndrome GALNS+delMorquio syndrome B GLB1+del+dupMotor and sensory neuropathy, hereditary, 4 (HMSN4) PEX7+delMowat-Wilson syndrome (MWIS) ZEB2+delMoyamoya disease 5 (MYMY5)Muckle-Wells syndrome (MWS) Mucolipidosis II alpha/beta (ML II) GNPTAB+del+dupMucolipidosis III alpha/beta (ML III) GNPTAB+del+dupMucopolysaccharidosis type 4A (MPS4A) GALNS+delMucopolysaccharidosis type IVB (MPS IVB) (MPS4B) GLB1+del+dupMuenke syndromeMuir-Torre syndrome (MRTES) MLH1+del, MSH2+delMullerian aplasia and hyperandrogenism (MULLAPL) Mullerian duct failure and hyperandrogenismMulticentric carpotarsal osteolysis syndrome (MCTO) Multicentric osteolysis, autosomal dominantMulticentric osteolysis, nodulosis, and arthropathy (MONA) Multiple acyl-CoA dehydrogenase deficiency (MADD) Multiple basal cell nevi, odonogenic keratocysts, and skeletal anomalies PTCH1+delMultiple hamartoma syndrome (MHAM) PTEN+delMultiple lentigines syndrome PTPN11+del+dup, RAF1+dup, BRAFMultiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness (LEOPARD)

PTPN11+del+dup, RAF1+dup, BRAF

Multiple myeloma (MM)Multiple self-healing squamous epithelioma, susceptiblity to (MSSE) TGFBR1+dupMultiple synostoses syndrome (SYNS) Multisystem inflammatory disease, neonatal onset (NOMID) Multisystemic smooth muscle dysfunction syndromeMuscular dystrophy with early contractures and cardiomyopathy, autosomal dominant LMNA+del

Muscular dystrophy, congenital, LMNA-related (MDCL) LMNA+delMuscular dystrophy, limb-girdle, type 1B (LGMD1B) LMNA+delMuscular dystrophy, proximal, type 1B LMNA+delMycobacterial disease, susceptibility to, X-linked, type 1 IKBKG (=NEMO)+delMyelodysplastic syndrome, susceptibility toMyelofibrosis with myeloid metaplasia, somatic (MMM)

Myelofibrosis, somaticMyelokathexis, isolated

Myhre syndrome (MYHRS) Myopathy, congenital, with excess of muscle spindles (CMEMS)Myxoma, intracardiac (INTMYX) PRKAR1A+delMyxoma, spotty pigmentation, and endocrine overactivity PRKAR1A+delNaegeli syndromeNaegeli-Franceschetti-Jadassohn syndrome (NFJS) Nail-patella syndrome (NPS) LMX1B+delNail-patella syndrome with primary open angle glaucoma (POAG) LMX1B+delNajjar syndrome LMNA+delName syndrome PRKAR1A+delNance-Insley syndrome COL2A1+del, COL11A2Nance-Sweeney chondrodysplasia COL2A1+del, COL11A2Navajo brainstem syndromeNeck cancerNemaline myopathy 4 (NEM4) Nephroblastoma WT1+delNephrolithiasis/osteoporosis, hypophosphatemic, 1 (NPHLOP1)Nephropathy, Wilms tumor, and genital anomalities WT1+delNephrotic syndrome, type 4 (NPHS4) WT1+delNesidioblastosisNetherton diseaseNetherton syndrome (NETH) (NS) Neurilemmomatosis, congenital cutaneous SMARCB1 (=INI1)+delNeurofibromatosis NF1+del, SMARCB1 (=INI1)+delNeurofibromatosis, type I, with leukemia (DD zu MMRCS) MSH2+delNeurofibromatosis-Noonan syndrome (NFNS) NF1+delNeuronopathy, distal hereditary motor, type V (HMN5) BSCL2+delNeuronopathy, distal hereditary motor, type VA (HMN5A) (HMN VA) BSCL2+delNeuropathy, distal hereditary motor, type VA (DHMN5A) (DHMN VA) BSCL2+delNeuropathy, hereditary sensory, type ID (HSN1D) ATL1+delNevo syndrome PLOD1+del+dupNevoid basal cell carcinoma syndrome (NBCCS) PTCH1+delNevus sebaceous of Jadassohn Nevus, keratinocytic, nonepidermolytic (KNEN)Nodulosis-arthropathy-osteolysis (NAO) syndrome Nonproliferative retinopathy, diabetic, susceptibility toNonsmall cell lung cancer, somaticNoonan syndrome PTPN11+dup, RAF1+del+dup, SOS1, RIT1, KRAS, MAP2K1, BRAF

CBL

POMCMC4RPOMCCEP19

GDF6

N.N.

WNT10ATCTN3MED12

IDH1, IDH2, PTH1R (= PTHR)

EDN3

CD96CD96

MED12

TCTN3KRAS

TCTN3COL11A2MATN3

IDH1MATN3GDF5 (=CDMP1), MATN3ACAN

IDH1, IDH2, PTH1R (= PTHR)RNU4ATAC

TNFRSF11B (=OPG)

PLOD2

MMP14, MMP2MAFBFGF23

TP63 (= p63), CTNNB1

AKT1

SRYSRY

HPGDTNFRSF11B (=OPG)

SMAD4KRASSTK11

PRSS1PRSS1

TRPV4

Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSL)

Noonan-Neurofibromatosis syndrome NF1+delObesity, adrenal insufficiency, and red hairObesity, autosomal dominant (OBESITY)Obesity, early-onset, susceptibility toObesity, morbideOccipital horn syndrome (OHS) ATP7A+del+dupOcular colobomaOculoauriculovertebral dysplasia (OAVD) TCOF1+delOculoauriculovertebral spectrum (OAVS) TCOF1+delOculofaciocardiodental (OFCD) syndrome BCOR+delO'Donnell-Papas syndrome PAX6+delOdontochondrodysplasiaOdontohypophosphatasia ALPL (=TNSALP)+delOdontoonychodermal dysplasia (OODD)OFD syndrome Ohdo syndrome, X-linked (OHDOX) Ohtahara syndrome, X-linked ARX+del+dupOligodendroglioma PTEN+delOllier disease Omenn syndrome (OS) DCLRE1C (=ARTEMIS)+del, RAG1+del, RAG2+delOmmunodeficiency NEMO-related without anhidrotic ectodermal dysplasia (NEMOID) IKBKG (=NEMO)+del

Ondine curseOnychoosteodysplasia LMX1B+delOpitz BBBG syndrome, type 1 (BBBG1) MID1+del+dupOpitz GBBB syndrome, type I (GGGB1) MID1+del+dupOpitz GBBB syndrome, X-linked MID1+del+dupOpitz syndrome (OS) MID1+del+dupOpitz syndrome, X-linked (OSX) MID1+del+dupOpitz trigonocephaly syndrome Opitz trigonocephaly-like syndromeOpitz-G syndrome, type 1 (OGS1) MID1+del+dupOpitz-Kaveggia syndrome (OKS) Optic nerve aplasia, bilateral (BONA) PAX6+delOptic nerve coloboma with renal disease PAX2+delOptic nerve head pits, bilateral, congenital PAX6+delOptic nerve hypoplasia and abnormalities of the central nervous system SOX2+delOptic nerve hypoplasia, bilateral (BONH) PAX6+delOral-facial-digital syndrome, type IV Organoid nevus phakomatosis Orofacial cleft 6, susceptibility to (OFC6) IRF6+del, TP63 (=p63), BMP4Orofaciodigital syndrome IV (OFD4) (OFDS IV) OSMED, heterozygous (WZS)Osteoarthritis of distal interphalangeal joints (OADIP)Osteoarthritis with mild chondrodysplasia (OACD) COL2A1+delOsteoarthritis, familial early-onset (FOA), susceptibility toOsteoarthritis, hand, (HOA)Osteoarthritis, susceptibility (OS)Osteochondritis dissecans, short stature, and early-onset osteoarthritis (OD)Osteochondromas, multiple EXT1+del (=TRPS2), EXT2+delOsteochondromatosisOsteodysplastic primordial dwarfism, type I Osteodysplastic primordial dwarfism, type II PCNT (=MOPD2)+delOsteoectasia, familial Osteogenesis imperfecta (OI), autosomal recessive SERPINF1, CRTAP, LEPRE1+del, PPIB, SERPINH1, FKBP10, SP7, BMP1,

TMEM38B+del, WNT1, CREB3L1, PLOD2

Osteogenesis imperfecta (OI), autsomal dominant COL1A1+del, COL1A2+del, IFITM5Osteogenesis imperfecta with congenital joint contracturesOsteoglophonic dysplasia (OGD) FGFR1+del (=KAL2)Osteolysis, hereditary multicentricOsteolysis, hereditary, of carpal bones with or without nephropathy Osteomalacia, tumor-inducedOsteonecrosis of femoral head COL2A1+delOsteoporosis, postmenopausal COL1A2+delOsteoporosis, susceptibility to (OSTEOP) COL1A1+delOtospondylomegaepiphyseal dysplasia (OSMED) COL2A1+del, COL11A2Ovarian cancer (OC)Ovarian cancer, endometrioid type MSH6+delOvarian cancer, somatic (OC)Overlap connective tissue disease (OCTD) FBN1+delOvotesticular disorder of sex developmentOvotesticular DSDOxycephaly TWIST1+delPachydermoperiostosis (PDP), autosomal recessive Paget disease, juvenile (JPD)PAH deficiency PAH+delPallister-Hall syndrome (PHS) GLI3+del+dup Pancreatic cancer (PNCA)Pancreatic cancer, somatic (= Pancreatic carcinoma)Pancreatic cancer, sporadic Pancreatic insufficiency and bone marrow dysfunction SBDS+delPancreatitis, chronicPancreatitis, hereditary (PCTT) (HPC) (HP) Panhypopituitarism PROP1+delPapillorenal syndrome PAX2+delParastremmatic dwarfism (PSTD)Parietal foramina 1 (PFM1) MSX2+del, ALX4

FLI1

PC

GJC2TBX15FOXI1

KCNJ11NKX2-5

HPGD

CTNNB1

RUNX1FGFR3

USB1 (= C16orf57)USB1 (= C16orf57)JAK2JAK2

WDR34

SMAD4

COL4A1COL4A1

PTH1R (= PTHR)

KISS1R

SERPINH1PTH1R (= PTHR)PTH1R (= PTHR)

WISP3

VEGFAPOMC

TRPV4WISP3

XYLT1

PTPN11

TERTCAV1

Paris-Trousseau thrombocytopenia (TCPT)Partington syndrome ARX+del+dupPartington X-linked mental retardation syndrome (PRTS) ARX+del+dupPC deficiency Pearson long range PCRs an mitochondrialer DNAPelizaeus-Merzenbacher-like disease, 1 (PMLD1)Pelviscapular dysplasiaPendred syndrome (PDS)Perrault syndrome (PRS) HSD17B4+del (= DBP)Persistent hyperinsulinemic hypoglycemia of infancy (PHHI)Persistent truncus arteriosus (PTA) Peters anomaly (PAN) PAX6+del, PITX2+delPeters-plus syndrome (PpS) B3GALTL+delPeutz-Jeghers syndrome (PJS) STK11+delPfeiffer syndrome (PS) FGFR1+del (=KAL2), FGFR2+delPhenylketonuria (PKU) PAH+delPheochromocytoma VHL+delPHO, autosomal recessive Phytanic acid oxidase deficiency PEX7+delPiebald trait (PBT) KIT+del, SNAI2+delPiebaldism KIT+del, SNAI2+delPigmented micronodular adrenocortical disease, primary, 1 PRKAR1A+delPigmented nodular adrenocortical disease, primary, 1 (PPNAD1) PRKAR1A+delPilomatricoma (PTR)Pitt-Hopkins-like syndrome 2 (PTHSL2) NRXN1+delPituitary dwarfism GH1+del+dup, PROP1+delPituitary hormone deficiency, combined (CPHD) POU1F1+del, PROP1+del, LHX3+del, LHX4+del, HESX1+del, OTX2+delPituitary hormone deficiency, combined, with rigid cervical spine or sensorineural deafness with pituitary dwarfism

LHX3+del

Platelet disorder, familial, with associated myeloid malignancy (FPDMM)

Platyspondylic lethal skeletal dysplasia Sand Diego type (PLSD-SD)Platyspondylic lethal skeletal dysplasia, Luton type (PLSD-L) COL2A1+delPlatyspondylic skeletal dysplasia, Torrance type (PLSD-T) COL2A1+delPoikiloderma with neutropenia (PN) Poikiloderma with neutropenia, Clericuzio-typePolycythemia rubra vera (PRV)Polycythemia vera (PV) Polycythemia, Chuvash type VHL+delPolycythemia, VHL-dependent VHL+delPolydactyly with neonatal chondrodystrophy, type IIIPolydactyly, postaxial and preaxial GLI3+del+dupPolyposis syndrome, hereditary mixed, 2 (HMPS2) BMPR1A+delPolyposis, familial, of enire gastrointestinal tract BMPR1A+del, SMAD4Polyposis, generalized juvenile, with pulmonary arteriovenous malformationPolyposis, hamartomatous intestinal STK11+delPolyposis, juvenile intestinal (PJI) BMPR1A+del, SMAD4Polyps-and-spots syndrome STK11+delPolysyndactyly with peculiar skull shape GLI3+del+dupPolysyndactyly, uncomplicated GLI3+del+dupPopliteal pterygium syndrome 1 (PPS) IRF6+delPOR deficiency POR+delPorencephaly, familial (PCEPH) Porencephaly, type 1, autosomal dominant (ADT1P)Postaxial polydactyly, type A (PAPA) GLI3+del+dupPosterior openbite, familial Potocki-Shaffer syndrome (PSS) EXT2+del, ALX4Prader-Willi syndrome (PWS) Deletions-/Duplikations- und Methylierungsanalyse der PWS-kritischen Region in

15q11-q13 (insbesondere SNRPN-Gen)

Precocious puberty, centralPremature ovarian failure FOXL2+del+dup, NR5A1Preterm premature rupture of the membranes, susceptibility to (PPROM)Primary failure of eruption, nonsyndromic Primary retention of teeth Primordial dwarfism GH1+del+dupProgeria LMNA+delProgeria syndrome, childhood onset LMNA+delProgressive pseudorheumatoid dysplasia (PPD)Progressive pseudorheumatoid dysplasia with hypoplastic toes COL2A1+delProliferative retinopathy, diabetic, susceptibility to Proopiomelanocortin deficiency Prostate cancer, somatic (PC) PTEN+delProteus syndrome (PROTEUSS) AKT1, PTEN+delProteus-like syndrome PTEN+delProud syndrome ARX+del+dupProximal 11p Deletion Syndrome (P11pDS) EXT2+del, ALX4Pseudoachondroplasia (PSACH) COMP+del, COL9A3Pseudoglycogenosis II LAMP2+delPseudo-Hurler polydystrophy GNPTAB+del+dupPseudo-Morquio syndrome, type 2Pseudorheumatoid dysplasia, progressive (PPD)Pseudorheumatoid dysplasia, progressive, with hypoplastic toes COL2A1+delPseudoxanthoma elasticum (PXE), modifier of severity ofPTEN hamartoma tumor syndrome (PHTS) (includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), Proteus syndrome (PS), and Proteus-like syndrome)

PTEN+del

Pterygium colli syndromePulmonary fibrosis, idiopathic, susceptibility to (IPF) TERC+del,TERT+delPulmonary fibrosis, telomere-related, 1

Pulmonary hypertension, primary, 3 (PPH3)

ANTXR2 (=CMG2)CTSKPCHOXA11TP63 (=p63)

THRB

COL4A1, COL4A2

TINF2

TINF2

KCTD1

TRPV4KRASWNT7ASETBP1AKT1, NRXN1delCOL10A1WNT10A

SOSTFLNBKRAS

TRPV4

KCTD1

WNT4

NR5A1SRY

KRASTNNT3, TNNI2, MYH3, TPM2

XYLT1

SKI

Pulmonic stenosis with cafe-au-lait spots NF1+delPuretic SyndromePycnodysostosis (PKND)Pyruvate carboxylase (PC) deficiency Radioulnar synostosis with amegakaryocytic thrombocytopenia

Rapp-Hodgkin syndrome (RHS) Rear syndrome SALL1+delRefetoff syndromeRefsum disease, adult (RDA) / classic PEX7+delRenal cell carcinoma, somatic (RCC) VHL+delRenal glucosuria (GLYS1) SLC5A2+delRenal hypoplasia, isolated PAX2+delRenal-coloboma syndrome PAX2+delRenal-ear-anal-radial syndrome SALL1+delRestrictive dermopathy, lethal LMNA+delReticuloendotheliosis, familial, with eosinophilia DCLRE1C (=ARTEMIS)+del, RAG1+del, RAG2+delRetinal arteriolar tortuosity, infantile Retinal detachment, rhegmatogenous, autosomal dominant (DRRD) COL2A1+delRetinal dystrophy, early-onset, and pituitary dysfunction OTX2+delRetinopathy, exudative. with bone marrow failure (ERBMF)Rett syndrome (RTT; RTS) MECP2+del Rett syndrome, atypical, CDKL5-related CDKL5+del+dup, FOXG1+delRevesz syndrome Rhabdoid predisposition syndrome 1 (RPS1) SMARCB1 (=INI1)+delRhabdoid tumor (RDT) SMARCB1 (=INI1)+delRhabdoid tumor predisposition syndrome (RTPS) SMARCB1 (=INI1)+del, SMARCA4Rhabdomyosarcoma 2 (RMS2) PAX3+delRhabdomyosarcoma, alveolar (RMSA) PAX3+delRhegmatogenous retinal detachment, autosomal dominant (DRRD) COL2A1+delRhizomelic chondrodysplasia punctata, type 1 (RCDP1) PEX7+delRiley-Smith syndrome PTEN+delRing dermoid of cornea (RDC) PITX2+delRubinstein-Taybi syndrome (RSTS) CREBBP+del, EP300+delRuvalcaba-Myhre-Smith syndrome (RMSS) PTEN+delSaethre-Chotzen syndrome (SCS) FGFR2+del, TWIST1+delSaethre-Chotzen syndrome with eyelid anomalies TWIST1+delScalp-ear-nipple syndrome (SENS) Scaphocephaly TWIST1+delScaphocephaly and Axenfeld-Rieger anomaly FGFR2+delScaphocephaly syndrome, familial (FSPC) FGFR2+delScaphocephaly, maxillary retrusion, and mental retardation FGFR2+delScapuloilioperoneal atrophy with cardiopathy LMNA+delScapuloperoneal spinal muscular atrophy (SPSMA) Schimmelpfennig-Feuerstein-Mims syndrome (SFM), somatic mosaic Schinzel phocomelia syndromeSchinzel-Giedion midface retraction syndrome (SGS) Schizophrenia, susceptibility toSchmid-type metaphyseal chondrodysplasia (SMCD) Schöpf-Schulz-Passarge syndrome (SSPS)Schwannomatosis SMARCB1 (=INI1)+delSchwartz-Jampel syndrome (SJS) HSPG2+del, LIFRSclerosteosis 1 (SOST1) (SOST) Scoliosis, congenital, with unilateral unsegmented barSebaceous nevus syndrome, linear Seckel syndrome PCNT (=MOPD2)+delSED congenita COL2A1+delSED tarda, X-linked TRAPPC2 (= SEDLIN)+delSED, Maroteaux type SED, Namaqualand type COL2A1+delSeip syndrome BSCL2+delSEN syndromeSensenbrenner syndrome IFT122, WDR35+del, IFT43Septooptic dysplasia HESX1+delSERKAL syndrome severe combined immunodeficiency Athabaskan-type (SCIDA) DCLRE1C (= ARTEMIS)+delsevere combined immunodeficiency with sensitivity to ionizing radiation (RS-SCID) DCLRE1C (= ARTEMIS)+delSevere combined immunodeficiency, autosomal recessive, T-cell-negative, B-cell-negative, NK-cell-positive (T-B-NK+ SCID)

RAG1+del, RAG2+del

Severe combined immunodeficiency, B cell-negative (= B- SCID) RAG1+del, RAG2+delSex reversal, XY, with or without adrenal failureSex-reversing locus on X (SRVX), formerly)Sexual ateleiotic dwarfism GH1+del+dupSFM syndrome Sheldon-Hall syndrome (SHS) Short rib-polydactyly syndrome (SRPS) DYNC2H1, WDR34, WDR35+del, WDR60Short stature syndrome, autosomal recessive, with intellectual disabilityShort stature, idiopathic, X-linked (ISS) SHOX+del Short stature, pituitary and cerebellar defects, and small sella turcica LHX4+delShprintzen-Goldberg craniosynostosis syndrome (SGS) Shwachman-Bodian syndrome (SBS) SBDS+delShwachman-Bodian-Diamond syndrome (SBDS) SBDS+delShwachman-Diamond syndrome (SDS) SBDS+delSilver snydrome BSCL2+delSilver spastic paraplegia syndrome BSCL2+delSilver-Russel syndrome Deletions-/Duplikations- und Methylierungsanalyse der differentiell methylierten

Regionen KvDMR (u.a. KCNQ1-Gen) und H19DMR (u.a. H19-Gen) sowie des CDKN1C-Gens in der SRS-kritischen Region in 11p15; maternal uniparental disomy of chromosome 7; CDKN1C-Sequenzierung

Simpson dysmorphia syndrome (SDYS) GPC3+del, GPC4del+dup

TRPV4

FGFR3NR5A1TRPV4

NKX2-5TP63 (=p63), WNT10BFLNBFLNBFLNB

DLL3, MESP2, LFNG, HES7PAPSS2IDH1, IDH2ACP5ACANMATN3B3GALT6, KIF22KIF22MMP13PAPSS2

WISP3

CHST3 (=C6ST1)

ACAN

TRPV4CHST3 (=C6ST1)FLNBRMRP, POP1RMRP, POP1COL10A1

N.N.TRPV4

NPR2NOG

LIFRWNT10A

SRYGDF5 (=CDMP1), NOGNOG

NOGNOG

ANTXR2 (=CMG2)

NOGERCC3 (=XPB)RNU4ATACSMAD4

u.a. MEG3

STK11, KITSTK11SRY

Simpson-Golabi-Behmel syndrome, type 1 (SGBS1) (SGBS) GPC3+del, GPC4del+dupSMD, Kozlowski typeSmith-Fineman-Myers syndrome type 1 (SFM1) ATRX+del+dupSmith-Lemli-Opitz syndrome (SLOS) DHCR7+delSmith-McCort dysplasia (SMC) DYM+dupSotos syndrome (SOTOSS) NSD1 (=SOTOS)+del, NFIXSpastic paraplegia with amyotrophy of hands and feet BSCL2+delSpastic paraplegia, autosomal dominant (SPG) ATL1+del, SPAST, BSCL2+delSpastic paraplegia, autosomal recessive (SPG) CYP7B1, SPG7 (=PGN)+del, GJC2Spermatocytic seminoma, somaticSpermatogenic failure 8 (SPGF8)Spinal muscular atrophy, congenital Spinal muscular atrophy, distal (DSMA) BSCL2+del, TRPV4Spinal muscular atrophy, distal, X-linked (SMAX) ATP7A+del+dupSplenic hypoplasia Split-hand/foot malformation (SHFM)Spondylism, congenital Spondylocarpotarsal syndrome Spondylocarpotarsal synostosis syndrome (SCT)Spondylocostal dysostosis, autosomal dominant (SCDO) TBX6+dupSpondylocostal dysostosis, autosomal recessive (SCDO)Spondylodysplasia and premature pubarcheSpondyloenchondrodysplasia with D-2-hydroxyglutaric aciduriaSpondyloenchondrodysplasia with immune dysregulation (SPENCDI)Spondyloepimetaphyseal dysplasia (SEDM), aggrecan typeSpondyloepimetaphyseal dysplasia (SEMD)Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall typeSpondyloepimetaphyseal dysplasia, Missouri type (SEMD-MO)Spondyloepimetaphyseal dysplasia, Pakistani type (SEMD, PA)Spondyloepimetaphyseal dysplasia, Strudwick type (SEMD-STR) COL2A1+delSpondyloepiphyseal dysplasia congenita (SEDC) COL2A1+delSpondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) Spondyloepiphyseal dysplasia tarda, X-linked (SEDT) TRAPPC2 (= SEDLIN)+delSpondyloepiphyseal dysplasia with congenital joint dislocationsSpondyloepiphyseal dysplasia with precocious osteoarthritis COL2A1+delSpondyloepiphyseal dysplasia, congenital type COL2A1+delSpondyloepiphyseal dysplasia, Kimberley type (SEDK)Spondyloepiphyseal dysplasia, late TRAPPC2 (= SEDLIN)+delSpondyloepiphyseal dysplasia, Maroteaux type (SEDM) Spondyloepiphyseal dysplasia, Omani type Spondylohumerofemoral hypoplasiaSpondylometaepiphyseal dysplasia, anauxetic typeSpondylometaepiphyseal dysplasia, Menger typeSpondylometaphyseal chondrodysplasia, japanese type (SMD)Spondylometaphyseal dysplasia (SMD) COL2A1+delSpondylometaphyseal dysplasia with dentinogenesis imperfectaSpondylometaphyseal dysplasia, Kozlowski type (SMDK) Spondyloperipheral dysplasia (SPD) COL2A1+delSquamous cell carcinoma, head and neck, somatic (HNSCC) PTEN+delSt. Helena dysplasiaStapes ankylosis with broad thumb and toes (SABTS) Steely hair disease ATP7A+del+dupStickler sydrome COL2A1+del, COL11A1+del, COL11A2, COL9A1, COL9A2Stickler syndrome, atypical COL2A1+delStickler syndrome, vitreous type COL2A1+del, COL11A1+delStiff skin syndrome (SSKS) FBN1+delStrudwick syndrome COL2A1+delStrumpell disease ATL1+delStrumpell-Lorrain syndrome ATL1+delStub thumb HOXD13+delStueve-Wiedemann syndrome (SWS) Succedaneous teeth, agenesis ofSugio-Kajii syndrome TRPS1+delSupravalvar aortic stenosis (SVAS) ELN+delSupravalvar aortic stenosis, Eisenberg type ELN+delSwyer syndrome Symphalangism, proximal (SYM) Symphalangism-brachydactyly syndromeSyndactyly with metacarpal and metatarsal fusion HOXD13+delSyndactyly, type 2 (SDTY2) HOXD13+delSyndactyly, type V (SDTY5) HOXD13+delSynostoses, multiple, with brachydactyly Synostosis of talus and calcaneus with short statureSynpolydactyly 1 (SPD1) HOXD13+delSynpolydactyly with foot anomalies HOXD13+delSystemic juvenile hyalinosisT3 resistance SLC16A2 (=MCT8)+delTarsal-carpal coalition syndrome (TCC) Tay syndrome Taybi-Linder syndrome (TALS) Telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli Telecanthus-hypospadias syndrome MID1+del+dupTemple-Syndrom (maternale uniparentale Disomie des Chromosoms 14)Teratoid tumor, atypical SMARCB1 (=INI1)+delTesticular germ cell tumor (TGCT)Testicular tumor, sporadic Testis-determining factor, X-chromosomal (TDFX), formerlyTetralogy of Fallot (TOF) JAG1+del+dup, NKX2-5, GATA4+del

NOGFGF23FGFR3

FGFR3FGFR3COL4A3, COL4A4COL4A3, COL4A4MLP (=C-MLP), JAK2GATA1HOXA11MLP (=C-MLP)RUNX1GATA1JAK2

THRBTHRBTHRB

WNT10AMMP14, MMP2MMP14MMP2HPGD

PTCH2

ERCC3 (=XPB)ERCC3 (=XPB)CD96

NKX2-5PRSS1

FGF23FGF23

WNT7APTH1R (= PTHR)

UPD14UPD7

NLRP3 (=NALP3)

SOST

DYNC2H1, WDR34

FLNBACADVL (=VLCAD)MMACHC

GJB2 (=CX26)G6PC

PAX6del, WT1delPAX6del, WT1delGORAB (=SCYL1BP1)

EZH2, (NSD1)EZH2, (NSD1)

COL11A2

CXCR4

Teunissen-Cremers syndromeTeutschlaender disease, familial Thanatophoric dwarfism Thanatophoric dysplasia, Luton variant COL2A1+delThanatophoric dysplasia, Torrance variant COL2A1+delThanatophoric dysplasia, type I (TD1) Thanatophoric dysplasia, type IIThin membrane nephropathy (TMN)Thin-basement-mambrane nephropathy Thrombocythemia (THCYT)Thrombocytopenia with beta-thalassemia, X-linked (XLTT)Thrombocytopenia, amegakaryocytic, with radioulnar synostosis Thrombocytopenia, congenital amegakaryocytic (CAMT)

Thrombocytopenia, familial, with propensity to acute myelogenous leukemia Thrombocytopenia, X-linked, with or without dyserythropoietic anemia (XLTDA)

ThrombocytosisThyroid carcinoma, follicular (FTC), somatic HRAS, PTEN+delThyroid carcinoma, papillary, somatic (PTC) PRKAR1A+delThyroid hormone metabolism, abnormal SECISBP2+delThyroid hormone resistance, generalized (GRTH) (GTHR)Thyroid hormone resistance, selective pituitary (PRTH)Thyroid hormone unresponsiveness Tight skin contracture syndrome, lethal LMNA+delTooth agenesis, selective, 4 (STHAG4) Torg syndrome Torg-Winchester syndrome Torg-Winchester syndrome, formerlyTouraine-Solente-Gole syndromeTownes-Brocks branchiootorenal-like syndrome SALL1+delTownes-Brocks syndrome (TBS) SALL1+delTransverse cleft, isolatedTreacher Collins syndrome (TCS) TCOF1+delTreacher Collins syndrome 1 (TCS1) TCOF1+delTreacher Collins-Franceschetti syndrome (TCOF) TCOF1+delTrichorhinophalangeal syndrome (TRPS) TRPS1+del, EXT1+del (=TRPS2)Trichothiodystrophy with congenital ichthyosis Trichothiodystrophy, photosensitive (TTDP)Trigonocephaly syndromeTrigonocephaly, nonsyndromic (TRICEPH) FGFR1+del (=KAL2)Triiodothyronine resistance SLC16A2 (=MCT8)+delTruncus arteriosus communisTrypsinogen deficiencyTuberous sclerosis (TSC) TSC2+del, TSC1+delTumoral calcinosis, hyperphosphatemic, familial (HFTC)Tumoral calcinosis, primary hyperphosphatemic (PHPTC) Turcot syndrome MLH1+del, MSH2+del, MSH6+del, PMS2+delTurner phenotype with normal karyotype PTPN11+dupUlna and fibula, absence of, with severe limb deficiency Unerupted second primary molar

Methylierungsanalyse der Region 14q32.2 (u.a. MEG3-Gen)Methylierungsanalyse der Region 7p12.1 und 7q32.2 (u.a. MEST-Gen)

Urticaria pigmentosa KIT+delUrticaria-deafness-amyloidosis (UDA) syndromeVACTERL association HOXD13+delVacuolar cardiomyopathy and myopathy, X-linked LAMP2+delVan Buchem disease (VBCH) Van der Woude syndrome 1 (VWS1) (VDWS) IRF6+delVATERL association with hydrocephalus (VATERL-H) PTEN+delVATERL association with macrocephaly and ventriculomegaly PTEN+delVentricular septal defect (VSD) GATA4+del, NKX2-5Verma-Naumoff syndromeVertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects with macrocephaly and ventriculomegaly (VATERL)

PTEN+del

Vertebral defects (V), anal atresia (A), cardiac malformations (C), tracheoesophageal fistula with esophageal atresia (TE), and radial or renal dysplasia (R), limb anomalies (L) (VACTERL)

HOXD13+delVertebral fusion with carpal coalition Very long chain Acyl-CoA dehydrogenase deficiencyVitamin B12 metabolic defect with combined deficiency of mathylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase

Vitamin D-resistant rickets PHEX+del+dup, FGF23Vitreoretinopathy with phalangeal epiphyseal dysplasia COL2A1+delVohwinkel syndrome (VS)Von Gierke diseasevon Hippel-Lindau syndrome (VHLS) VHL+delVon Recklinghausen disease NF1+delWaardenburg syndrome with dystopia canthorum PAX3+del, SNAI2del, EDN3Wagner syndrome type 2 (WGN2) COL2A1+delWAGR syndrome WAGRO syndrome Walt Disney dwarfismWatson syndrome NF1+delWeaver syndrome (WES) Weaver-Smith syndrome (WSS)Weill-Marchesani syndrome (WMS) FBN1+delWeissenbacher-Zweymueller syndrome (WZS)West syndrome, X-linked ARX+del+dupWeyers acrodental dysostosis (WAD) EVC (=EVC1)+del, EVC2+delWeyers acrofacial dysostosis EVC (=EVC1)+del, EVC2+delWHIM (Warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome

PAX6del, WT1delPAX6del, WT1del

GPC3

MMP14

EDN3ERCC3 (=XPB)ERCC3 (=XPB)

XMESIDERCC3 (=XPB)SRY

White forelock with malformations PAX3+delWiedemann-Beckwith syndroms (WBS) CDKN1C+dup; NSD1 (=SOTOS)+delWilliams-Beuren syndrome (WBS) ELNdelWilms tumor and pseudo- or true hermaphroditism WT1+delWilms tumor, aniridia, genitourinary anomalies, and mental retardation syndromeWilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome

Wilms tumor, somaticWilms tumor, type 1 (WT1) WT1+delWinchester syndrome (WNCHRS)Wolfram syndrome 1 (WFS1) (WFS) WFS1+delWolfram-like syndrome, autosomal dominant (WFSL) WFS1+delWrinkly skin syndrome (WSS) ATP6V0A2+delWS4B with Hirschsprung diseaseXeroderma pigmentosum, group B (XBP) Xeroderma pigmentosum/Cockayne syndrome (XPB/CS)X-linked recessive chondrodysplasia punctata type 1 (CPXR1) ARSE+del bei FrauenXLMR-Hypotonic facies syndrome ATRX+del+dup (bei Frauen)

ARX+del+dupXP, group B (XPBC)XX Male, SRY-positiveYellow nail syndrome (YNS) FOXC2+del