14q22q23 microdeletion syndrome
|
(Orphanet:264200)
|
15q24 microdeletion syndrome
|
(Orphanet:94065)
|
16p11.2p12.2 microdeletion syndrome
|
(Orphanet:261211)
|
17q12 microdeletion syndrome
|
(Orphanet:261265)
|
19p13.12 microdeletion syndrome
|
(Orphanet:254346)
|
1p36 deletion syndrome
|
(Orphanet:1606)
|
1q21.1 microdeletion syndrome
|
(Orphanet:250989)
|
2q23.1 microdeletion syndrome
|
(Orphanet:228402)
|
2q31.1 microdeletion syndrome
|
(Orphanet:251014)
|
2q37 microdeletion syndrome
|
(Orphanet:1001)
|
3C syndrome
|
(Orphanet:7)
|
4q21 microdeletion syndrome
|
(Orphanet:238750)
|
6q16 deletion syndrome
|
(Orphanet:171829)
|
8q12 microduplication syndrome
|
(Orphanet:228399)
|
AARSKOG-SCOTT SYNDROME
|
(OMIM:305400)
|
AREDYLD syndrome
|
(Orphanet:1133)
|
Aarskog-Scott syndrome
|
(Orphanet:915)
|
Abruzzo-Erickson syndrome
|
(Orphanet:921)
|
Achondrogenesis type 1A
|
(Orphanet:93299)
|
Achondrogenesis type 1B
|
(Orphanet:93298)
|
Achondroplasia
|
(Orphanet:15)
|
Acro-fronto-facio-nasal dysostosis
|
(Orphanet:1784)
|
Acro-oto-ocular syndrome
|
(Orphanet:2980)
|
Acro-pectoro-renal dysplasia
|
(Orphanet:956)
|
Acrocapitofemoral dysplasia
|
(Orphanet:63446)
|
Acrodysostosis
|
(Orphanet:950)
|
Acrodysostosis with multiple hormone resistance
|
(Orphanet:280651)
|
Acrofacial dysostosis, Catania type
|
(Orphanet:1786)
|
Acrofacial dysostosis, Weyers type
|
(Orphanet:952)
|
Acromesomelic dysplasia, Grebe type
|
(Orphanet:2098)
|
Acromesomelic dysplasia, Hunter-Thomson type
|
(Orphanet:968)
|
Acromesomelic dysplasia, Maroteaux type
|
(Orphanet:40)
|
Acromicric dysplasia
|
(Orphanet:969)
|
Acroosteolysis, dominant type
|
(Orphanet:955)
|
Adams-Oliver syndrome
|
(Orphanet:974)
|
Alopecia - contractures - dwarfism - intellectual deficit
|
(Orphanet:1005)
|
Alopecia-intellectual deficit syndrome
|
(Orphanet:2850)
|
Alpha-thalassemia - X-linked intellectual deficit syndrome
|
(Orphanet:847)
|
Atkin-Flaitz syndrome
|
(Orphanet:1193)
|
Atypical Rett syndrome
|
(Orphanet:3095)
|
Autosomal dominant Larsen syndrome
|
(Orphanet:503)
|
Autosomal dominant Robinow syndrome
|
(Orphanet:3107)
|
Autosomal dominant omodysplasia
|
(Orphanet:93328)
|
Autosomal recessive Kenny-Caffey syndrome
|
(Orphanet:93324)
|
Autosomal recessive Robinow syndrome
|
(Orphanet:1507)
|
Autosomal recessive facio-digito-genital syndrome
|
(Orphanet:1974)
|
Banki syndrome
|
(Orphanet:1228)
|
Brachydactylous dwarfism, Mseleni type
|
(Orphanet:2619)
|
Brachydactyly - arterial hypertension
|
(Orphanet:1276)
|
Brachydactyly - elbow wrist dysplasia
|
(Orphanet:1275)
|
Brachydactyly - mesomelia - intellectual deficit - heart defects
|
(Orphanet:1277)
|
Brachydactyly - nystagmus - cerebellar ataxia
|
(Orphanet:1246)
|
Brachydactyly - preaxial hallux varus
|
(Orphanet:1278)
|
Brachydactyly type A1
|
(Orphanet:93388)
|
Brachydactyly type A2
|
(Orphanet:93396)
|
Brachydactyly type A4
|
(Orphanet:93394)
|
Brachydactyly type B
|
(Orphanet:93383)
|
Brachydactyly type B2
|
(Orphanet:140908)
|
Brachydactyly type C
|
(Orphanet:93384)
|
Brachydactyly-long thumb syndrome
|
(Orphanet:2946)
|
Brachydactyly-syndactyly, Zhao type
|
(Orphanet:93409)
|
Brachymorphism - onychodysplasia - dysphalangism
|
(Orphanet:1292)
|
Brachytelephalangy - dysmorphism - Kallmann syndrome
|
(Orphanet:1295)
|
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME2
|
(OMIM:610185)
|
CHARGE syndrome
|
(Orphanet:138)
|
CHROMOSOME 17p13.1 DELETION SYNDROME
|
(OMIM:613776)
|
CINCA syndrome
|
(Orphanet:1451)
|
CLARK-BARAITSER SYNDROME
|
(OMIM:300602)
|
CODAS syndrome
|
(Orphanet:1458)
|
Campomelia, Cumming type
|
(Orphanet:1318)
|
Camptobrachydactyly
|
(Orphanet:1319)
|
Camptodactyly syndrome, Guadalajara type 1
|
(Orphanet:1327)
|
Cardiodysrhythmic potassium-sensitive periodic paralysis
|
(Orphanet:37553)
|
Cardiospondylocarpofacial syndrome
|
(Orphanet:3238)
|
Carey-Fineman-Ziter syndrome
|
(Orphanet:1358)
|
Cartilage-hair hypoplasia
|
(Orphanet:175)
|
Cataract - deafness - hypogonadism
|
(Orphanet:1383)
|
Cataract - intellectual deficit - hypogonadism
|
(Orphanet:1387)
|
Charlie M syndrome
|
(Orphanet:1406)
|
Cleft lip/palate - intestinal malrotation - cardiopathy
|
(Orphanet:2001)
|
Cleft palate - short stature - vertebral anomalies
|
(Orphanet:2015)
|
Cleidocranial dysplasia
|
(Orphanet:1452)
|
Cleidorhizomelic syndrome
|
(Orphanet:1453)
|
Coffin-Lowry syndrome
|
(Orphanet:192)
|
Cold-induced sweating syndrome
|
(Orphanet:157820)
|
Coloboma of macula - brachydactyly type B
|
(Orphanet:1471)
|
Cooks syndrome
|
(Orphanet:1487)
|
Cowden syndrome
|
(Orphanet:201)
|
Cranioectodermal dysplasia
|
(Orphanet:1515)
|
Craniofaciofrontodigital syndrome
|
(Orphanet:363705)
|
Craniofrontonasal dysplasia
|
(Orphanet:1520)
|
Craniomicromelic syndrome
|
(Orphanet:1524)
|
Craniosynostosis - dysmorphism - brachydactyly
|
(Orphanet:1535)
|
Craniosynostosis - hydrocephalus - Chiari I malformation - radioulnar synostosis
|
(Orphanet:171839)
|
Craniosynostosis, Herrmann-Opitz type
|
(Orphanet:2145)
|
Crouzon syndrome - acanthosis nigricans
|
(Orphanet:93262)
|
Cryptomicrotia - brachydactyly - excess fingertip arch
|
(Orphanet:1547)
|
DPM1-CDG
|
(Orphanet:79322)
|
Dahlberg-Borer-Newcomer syndrome
|
(Orphanet:1563)
|
Deafness - small bowel diverticulosis - neuropathy
|
(Orphanet:3217)
|
Deafness - epiphyseal dysplasia - short stature
|
(Orphanet:3218)
|
Dermato-cardio-skeletal syndrome, Borrone type
|
(Orphanet:1266)
|
Dermatoosteolysis, Kirghizian type
|
(Orphanet:1657)
|
Diastrophic dwarfism
|
(Orphanet:628)
|
Distal 22q11.2 microdeletion syndrome
|
(Orphanet:261330)
|
Distal monosomy 6p
|
(Orphanet:96125)
|
Distal monosomy 9p
|
(Orphanet:1642)
|
Down syndrome
|
(Orphanet:870)
|
Duane retraction syndrome
|
(Orphanet:233)
|
Dubowitz syndrome
|
(Orphanet:235)
|
Dysostosis, Stanescu type
|
(Orphanet:1798)
|
Ear-patella-short stature syndrome
|
(Orphanet:2554)
|
Ectrodactyly - polydactyly
|
(Orphanet:1892)
|
Embryofetopathy due to oral anticoagulant therapy
|
(Orphanet:1914)
|
Embryonary disorganization syndrome
|
(Orphanet:1664)
|
Emery-Nelson syndrome
|
(Orphanet:1927)
|
Eng-Strom syndrome
|
(Orphanet:1937)
|
Epimetaphyseal skeletal dysplasia
|
(Orphanet:1819)
|
Erythrokeratodermia variabilis
|
(Orphanet:317)
|
Exostoses - anetodermia - brachydactyly type E
|
(Orphanet:1962)
|
Familial digital arthropathy-brachydactyly
|
(Orphanet:85169)
|
Feingold syndrome
|
(Orphanet:1305)
|
Fetal hydantoin syndrome
|
(Orphanet:1912)
|
Fibrochondrogenesis
|
(Orphanet:2021)
|
Fibular aplasia - complex brachydactyly
|
(Orphanet:2639)
|
Fine-Lubinsky syndrome
|
(Orphanet:1272)
|
Floating-Harbor syndrome
|
(Orphanet:2044)
|
Fountain syndrome
|
(Orphanet:3219)
|
GELEOPHYSIC DYSPLASIA 1
|
(OMIM:231050)
|
GELEOPHYSIC DYSPLASIA 2
|
(OMIM:614185)
|
GMS syndrome
|
(Orphanet:2090)
|
Geleophysic dysplasia
|
(Orphanet:2623)
|
Genito-palato-cardiac syndrome
|
(Orphanet:2075)
|
Genitopatellar syndrome
|
(Orphanet:85201)
|
Goldblatt syndrome
|
(Orphanet:166272)
|
Gonadal dysgenesis, XY type - associated anomalies
|
(Orphanet:1770)
|
Gorlin syndrome
|
(Orphanet:377)
|
Greenberg dysplasia
|
(Orphanet:1426)
|
Growth delay due to insulin-like growth factor I resistance
|
(Orphanet:73273)
|
Guttmacher syndrome
|
(Orphanet:2957)
|
Hall-Riggs syndrome
|
(Orphanet:2107)
|
Heart-hand syndrome type 2
|
(Orphanet:1350)
|
Heart-hand syndrome type 3
|
(Orphanet:1342)
|
Hennekam syndrome
|
(Orphanet:2136)
|
Hirschsprung disease - type D brachydactyly
|
(Orphanet:2150)
|
Holoprosencephaly
|
(Orphanet:2162)
|
Holoprosencephaly - craniosynostosis
|
(Orphanet:2163)
|
Humerus trochlea aplasia
|
(Orphanet:3383)
|
Hydrocephalus - costovertebral dysplasia - Sprengel anomaly
|
(Orphanet:2180)
|
Hypertelorism, Teebi type
|
(Orphanet:1519)
|
Hypochondroplasia
|
(Orphanet:429)
|
Hypoglossia - hypodactyly
|
(Orphanet:989)
|
Intellectual deficit - balding - patella luxation - acromicria
|
(Orphanet:3041)
|
Intellectual deficit - sparse hair - brachydactyly
|
(Orphanet:3051)
|
Intellectual deficit, X-linked - craniofacioskeletal syndrome
|
(Orphanet:163979)
|
Intellectual deficit, X-linked, Vitale type
|
(Orphanet:85289)
|
Isolated brachycephaly
|
(Orphanet:35099)
|
Jeune syndrome
|
(Orphanet:474)
|
KBG syndrome
|
(Orphanet:2332)
|
Kabuki syndrome
|
(Orphanet:2322)
|
Kenny-Caffey syndrome
|
(Orphanet:2333)
|
Langer-Giedion syndrome
|
(Orphanet:502)
|
Laron syndrome
|
(Orphanet:633)
|
Larsen-like osseous dysplasia - short stature
|
(Orphanet:2370)
|
Laurence-Moon syndrome
|
(Orphanet:2377)
|
Lenz-Majewski hyperostotic dwarfism
|
(Orphanet:2658)
|
Leri pleonosteosis
|
(Orphanet:2900)
|
Lethal Kniest-like dysplasia
|
(Orphanet:2347)
|
Lethal chondrodysplasia, Moerman type
|
(Orphanet:1420)
|
Low birth weight - dwarfism - dysgammaglobulinemia
|
(Orphanet:2621)
|
Lowry-Wood syndrome
|
(Orphanet:1824)
|
Léri-Weill dyschondrosteosis
|
(Orphanet:240)
|
MICROCEPHALY, GROWTH RETARDATION, CATARACT, HEARING LOSS, AND UNUSUALAPPEARANCE
|
(OMIM:612947)
|
Macrocephaly - short stature - paraplegia
|
(Orphanet:2427)
|
Madelung deformity
|
(Orphanet:35688)
|
Marinesco-Sjögren syndrome
|
(Orphanet:559)
|
McKusick-Kaufman syndrome
|
(Orphanet:2473)
|
Mesoaxial synostotic syndactyly with phalangeal reduction
|
(Orphanet:157801)
|
Mesomelia-synostoses syndrome
|
(Orphanet:2496)
|
Metaphyseal acroscyphodysplasia
|
(Orphanet:1240)
|
Metaphyseal chondrodysplasia, Jansen type
|
(Orphanet:33067)
|
Metaphyseal chondrodysplasia, Schmid type
|
(Orphanet:174)
|
Metaphyseal dysostosis - intellectual deficit - conductive deafness
|
(Orphanet:2502)
|
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
|
(Orphanet:2504)
|
Microbrachycephaly - ptosis - cleft lip
|
(Orphanet:2511)
|
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
|
(Orphanet:85172)
|
Microcephalic osteodysplastic primordial dwarfism type 2
|
(Orphanet:2637)
|
Microcephalic osteodysplastic primordial dwarfism types 1 and 3
|
(Orphanet:2636)
|
Microcephalic primordial dwarfism, Toriello type
|
(Orphanet:2643)
|
Moebius syndrome
|
(Orphanet:570)
|
Mononen-Karnes-Senac syndrome
|
(Orphanet:2565)
|
Monosomy 13q14
|
(Orphanet:1587)
|
Monosomy 18p
|
(Orphanet:1598)
|
Muenke syndrome
|
(Orphanet:53271)
|
Multiple epiphyseal dysplasia
|
(Orphanet:251)
|
Multiple epiphyseal dysplasia due to collagen 9 anomaly
|
(Orphanet:166002)
|
Multiple epiphyseal dysplasia type 1
|
(Orphanet:93308)
|
Multiple epiphyseal dysplasia, Beighton type
|
(Orphanet:166011)
|
Multiple synostoses syndrome
|
(Orphanet:3237)
|
Mycophenolate mofetil embryopathy
|
(Orphanet:268249)
|
Myhre syndrome
|
(Orphanet:2588)
|
Night blindness - skeletal anomalies - dysmorphism
|
(Orphanet:1390)
|
Non-distal monosomy 10q
|
(Orphanet:1581)
|
Non-rhizomelic chondrodysplasia punctata
|
(Orphanet:176)
|
Noonan syndrome
|
(Orphanet:648)
|
Noonan syndrome-like disorder with loose anagen hair
|
(Orphanet:2701)
|
Occipital horn syndrome
|
(Orphanet:198)
|
Oculo-palato-cerebral syndrome
|
(Orphanet:2714)
|
Oculo-skeletal-renal syndrome
|
(Orphanet:2716)
|
Oculodentodigital dysplasia
|
(Orphanet:2710)
|
Oculomaxillofacial dysostosis
|
(Orphanet:1794)
|
Oculoosteocutaneous syndrome
|
(Orphanet:2713)
|
Opsismodysplasia
|
(Orphanet:2746)
|
Orofaciodigital syndrome type 1
|
(Orphanet:2750)
|
Orofaciodigital syndrome type 2
|
(Orphanet:2751)
|
Orofaciodigital syndrome type 5
|
(Orphanet:2919)
|
Orofaciodigital syndrome type 8
|
(Orphanet:2755)
|
Osteocraniostenosis
|
(Orphanet:2763)
|
Osteoglophonic dwarfism
|
(Orphanet:2645)
|
Osteoporosis - macrocephaly - blindness - joint hyperlaxity
|
(Orphanet:2787)
|
Otopalatodigital syndrome type 1
|
(Orphanet:90650)
|
Otopalatodigital syndrome type 2
|
(Orphanet:90652)
|
Otospondylomegaepiphyseal dysplasia
|
(Orphanet:1427)
|
PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY
|
(OMIM:602342)
|
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM
|
(OMIM:614501)
|
Pallister-Hall syndrome
|
(Orphanet:672)
|
Paraplegia - brachydactyly - cone-shaped epiphysis
|
(Orphanet:2823)
|
Paraplegia - intellectual deficit - hyperkeratosis
|
(Orphanet:2824)
|
Parastremmatic dwarfism
|
(Orphanet:2646)
|
Pelvis-shoulder dysplasia
|
(Orphanet:2839)
|
Peripheral dysostosis
|
(Orphanet:1795)
|
Peters-plus syndrome
|
(Orphanet:709)
|
Pfeiffer syndrome
|
(Orphanet:710)
|
Pfeiffer syndrome type 1
|
(Orphanet:93258)
|
Pfeiffer syndrome type 2
|
(Orphanet:93259)
|
Pfeiffer syndrome type 3
|
(Orphanet:93260)
|
Pfeiffer-Palm-Teller syndrome
|
(Orphanet:2871)
|
Platyspondylic dysplasia, Torrance type
|
(Orphanet:85166)
|
Poland syndrome
|
(Orphanet:2911)
|
Polyneuropathy - intellectual deficit - acromicria - premature menopause
|
(Orphanet:2928)
|
Postaxial polydactyly - dental and vertebral anomalies
|
(Orphanet:2916)
|
Prader-Willi syndrome
|
(Orphanet:739)
|
Prata-Liberal-Goncalves syndrome
|
(Orphanet:2956)
|
Progressive osseous heteroplasia
|
(Orphanet:2762)
|
Prominent glabella - microcephaly - hypogenitalism
|
(Orphanet:2083)
|
Proximal symphalangism
|
(Orphanet:3250)
|
Pseudoachondroplasia
|
(Orphanet:750)
|
Pycnodysostosis
|
(Orphanet:763)
|
Rabson-Mendenhall syndrome
|
(Orphanet:769)
|
Radial ray hypoplasia - choanal atresia
|
(Orphanet:3026)
|
Radio-renal syndrome
|
(Orphanet:3015)
|
Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism
|
(Orphanet:3085)
|
Rhizomelic dysplasia, Patterson-Lowry type
|
(Orphanet:2831)
|
Rhizomelic syndrome, Urbach type
|
(Orphanet:3098)
|
Roberts syndrome
|
(Orphanet:3103)
|
Rothmund-Thomson syndrome
|
(Orphanet:2909)
|
Rubinstein-Taybi syndrome
|
(Orphanet:783)
|
Ruvalcaba syndrome
|
(Orphanet:3121)
|
SHORT syndrome
|
(Orphanet:3163)
|
Saethre-Chotzen syndrome
|
(Orphanet:794)
|
Sanjad-Sakati syndrome
|
(Orphanet:2323)
|
Say-Field-Coldwell syndrome
|
(Orphanet:3133)
|
Short rib-polydactyly syndrome
|
(Orphanet:1505)
|
Short rib-polydactyly syndrome, Beemer-Langer type
|
(Orphanet:93268)
|
Short rib-polydactyly syndrome, Verma-Naumoff type
|
(Orphanet:93271)
|
Short stature - valvular heart disease - characteristic facies
|
(Orphanet:2868)
|
Short stature - wormian bones - dextrocardia
|
(Orphanet:2863)
|
Sillence syndrome
|
(Orphanet:3168)
|
Simpson-Golabi-Behmel syndrome
|
(Orphanet:373)
|
Skeletal dysplasia - epilepsy - short stature
|
(Orphanet:1858)
|
Skeletal dysplasia - intellectual deficit
|
(Orphanet:1436)
|
Smith-Lemli-Opitz syndrome
|
(Orphanet:818)
|
Smith-Magenis syndrome
|
(Orphanet:819)
|
Spondyloepimetaphyseal dysplasia with joint laxity
|
(Orphanet:93359)
|
Spondyloepimetaphyseal dysplasia, Irapa type
|
(Orphanet:93351)
|
Spondyloepiphyseal dysplasia, Cantu type
|
(Orphanet:163654)
|
Spondylometaphyseal dysplasia - cone-rod dystrophy
|
(Orphanet:85167)
|
Spondylometaphyseal dysplasia, A4 type
|
(Orphanet:168555)
|
Spondylometaphyseal dysplasia, Kozlowski type
|
(Orphanet:93314)
|
Spondylometaphyseal dysplasia, Sedaghatian type
|
(Orphanet:93317)
|
Spondyloperipheral dysplasia - short ulna
|
(Orphanet:1856)
|
Stern-Lubinsky-Durrie syndrome
|
(Orphanet:3194)
|
Subaortic stenosis - short stature
|
(Orphanet:3191)
|
Summitt syndrome
|
(Orphanet:3210)
|
Symphalangism with multiple anomalies of hands and feet
|
(Orphanet:3246)
|
Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes
|
(Orphanet:357332)
|
Syndactyly type 2
|
(Orphanet:93403)
|
Syndrome with brachydactyly
|
(Orphanet:69028)
|
Syndromic X-linked intellectual deficit due to JARID1C mutation
|
(Orphanet:85279)
|
TRICHORHINOPHALANGEAL SYNDROME, TYPE III
|
(OMIM:190351)
|
Tel Hashomer camptodactyly syndrome
|
(Orphanet:3292)
|
Temtamy syndrome
|
(Orphanet:1777)
|
Tetralogy of Fallot
|
(Orphanet:3303)
|
Tetrasomy X
|
(Orphanet:9)
|
Thanatophoric dysplasia
|
(Orphanet:2655)
|
Thanatophoric dysplasia type 1
|
(Orphanet:1860)
|
Thanatophoric dysplasia type 2
|
(Orphanet:93274)
|
Thiemann disease, familial form
|
(Orphanet:3314)
|
Thumb stiffness - brachydactyly - intellectual deficit
|
(Orphanet:1078)
|
Tibial aplasia - ectrodactyly
|
(Orphanet:3329)
|
Toriello-Carey syndrome
|
(Orphanet:3338)
|
Toriello-Lacassie-Droste syndrome
|
(Orphanet:3339)
|
Tricho-retino-dento-digital syndrome
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(Orphanet:1264)
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Trichorhinophalangeal syndrome type 1 and 3
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(Orphanet:77258)
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Triphalangeal thumbs - brachyectrodactyly
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(Orphanet:2947)
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Trisomy 20p
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(Orphanet:261318)
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Trisomy 8q
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(Orphanet:1752)
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Trisomy 9p
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(Orphanet:236)
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Ulnar/fibula ray defect - brachydactyly
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(Orphanet:52056)
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Urban-Rogers-Meyer syndrome
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(Orphanet:3409)
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Velo-facial-skeletal syndrome
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(Orphanet:3424)
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Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence
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(Orphanet:3201)
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Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay
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(Orphanet:73246)
|
WT limb-blood syndrome
|
(Orphanet:3466)
|
Weill-Marchesani syndrome
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(Orphanet:3449)
|
Werner syndrome
|
(Orphanet:902)
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Wilson-Turner syndrome
|
(Orphanet:3459)
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Wolcott-Rallison syndrome
|
(Orphanet:1667)
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X-linked dominant chondrodysplasia, Chassaing-Lacombe type
|
(Orphanet:163966)
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X-linked intellectual deficit with marfanoid habitus
|
(Orphanet:776)
|
X-linked spondyloepimetaphyseal dysplasia
|
(Orphanet:93349)
|
Yunis-Varon syndrome
|
(Orphanet:3472)
|
Zunich-Kaye syndrome
|
(Orphanet:3474)
|