15q24 microdeletion syndrome
|
(Orphanet:94065)
|
6p22 microdeletion syndrome
|
(Orphanet:251046)
|
AARSKOG-SCOTT SYNDROME
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(OMIM:305400)
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ACRORENAL SYNDROME, AUTOSOMAL RECESSIVE
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(OMIM:201310)
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Aarskog-Scott syndrome
|
(Orphanet:915)
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Acrofacial dysostosis, Weyers type
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(Orphanet:952)
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Alpha-thalassemia - X-linked intellectual deficit syndrome
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(Orphanet:847)
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Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
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(Orphanet:98791)
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Anophthalmia plus syndrome
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(Orphanet:1104)
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Antenatal multiminicore disease with arthrogryposis multiplex congenita
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(Orphanet:178148)
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Arthrogryposis with oculomotor limitation and electroretinal anomalies
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(Orphanet:1154)
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Ascher syndrome
|
(Orphanet:1253)
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Atrioventricular defect - blepharophimosis -radial defects
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(Orphanet:1352)
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Autosomal dominant Robinow syndrome
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(Orphanet:3107)
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Autosomal recessive Robinow syndrome
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(Orphanet:1507)
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BRACHYDACTYLY, TYPE A1, B
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(OMIM:607004)
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Banki syndrome
|
(Orphanet:1228)
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Bardet-Biedl syndrome
|
(Orphanet:110)
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Bowen-Conradi syndrome
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(Orphanet:1270)
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Brachydactyly type A6
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(Orphanet:93382)
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Brachyolmia
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(Orphanet:1293)
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C syndrome
|
(Orphanet:1308)
|
CHONDRODYSPLASIA, ACROMESOMELIC, WITH GENITAL ANOMALIES
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(OMIM:609441)
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COLD-INDUCED SWEATING SYNDROME 2
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(OMIM:610313)
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Catel-Manzke syndrome
|
(Orphanet:1388)
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Caudal appendage - deafness
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(Orphanet:1123)
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Cerebro-costo-mandibular syndrome
|
(Orphanet:1393)
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Cold-induced sweating syndrome
|
(Orphanet:157820)
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Corpus callosum agenesis - double urinary collecting system
|
(Orphanet:1492)
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Cranio-osteoarthropathy
|
(Orphanet:1525)
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Cranioectodermal dysplasia
|
(Orphanet:1515)
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DEND syndrome
|
(Orphanet:79134)
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Diaphragmatic defect - limb deficiency - skull defect
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(Orphanet:2141)
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Digitotalar dysmorphism
|
(Orphanet:1146)
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Dislocation of the hip - dysmorphism
|
(Orphanet:2412)
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Distal monosomy 10q
|
(Orphanet:96148)
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Distal monosomy 17q
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(Orphanet:1597)
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Distal trisomy 18q
|
(Orphanet:1716)
|
ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVEFACIAL FEATURES
|
(OMIM:609944)
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Familial digital arthropathy-brachydactyly
|
(Orphanet:85169)
|
Feingold syndrome
|
(Orphanet:1305)
|
Frontonasal dysplasia
|
(Orphanet:250)
|
GOMBO SYNDROME
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(OMIM:233270)
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Goodman syndrome
|
(Orphanet:65798)
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Grix-Blankenship-Peterson syndrome
|
(Orphanet:2099)
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Growth delay due to insulin-like growth factor I resistance
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(Orphanet:73273)
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Growth delay due to insulin-like growth factor type 1 deficiency
|
(Orphanet:73272)
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Grubben-de Cock-Borghgraef syndrome
|
(Orphanet:2101)
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Incontinentia pigmenti
|
(Orphanet:464)
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Intellectual deficit - microcephaly - phalangeal - facial abnormalities
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(Orphanet:3067)
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Intellectual deficit, X-linked - dysmorphism - cerebral atrophy
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(Orphanet:2958)
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Ito hypomelanosis
|
(Orphanet:435)
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Joubert syndrome with orofaciodigital defect
|
(Orphanet:2754)
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KBG syndrome
|
(Orphanet:2332)
|
MICROPHTHALMIA, SYNDROMIC 1
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(OMIM:309800)
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McDonough syndrome
|
(Orphanet:2471)
|
Meckel syndrome
|
(Orphanet:564)
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Microcephalic primordial dwarfism, Toriello type
|
(Orphanet:2643)
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Moebius syndrome
|
(Orphanet:570)
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Monosomy 18p
|
(Orphanet:1598)
|
Mosaic trisomy 15
|
(Orphanet:1706)
|
Mosaic trisomy 8
|
(Orphanet:96061)
|
Mosaic trisomy 9
|
(Orphanet:99776)
|
Muenke syndrome
|
(Orphanet:53271)
|
Multiple epiphyseal dysplasia, Al-Gazali type
|
(Orphanet:166024)
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Multiple synostoses syndrome
|
(Orphanet:3237)
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Myhre syndrome
|
(Orphanet:2588)
|
Nager syndrome
|
(Orphanet:245)
|
Neu-Laxova syndrome
|
(Orphanet:2671)
|
Non-distal monosomy 10q
|
(Orphanet:1581)
|
Noonan syndrome
|
(Orphanet:648)
|
OPITZ-KAVEGGIA SYNDROME
|
(OMIM:305450)
|
OSLAM syndrome
|
(Orphanet:2760)
|
Oculo-skeletal-renal syndrome
|
(Orphanet:2716)
|
Oculodentodigital dysplasia
|
(Orphanet:2710)
|
Oro-mandibular-limb hypogenesis syndrome
|
(Orphanet:2749)
|
Orofaciodigital syndrome type 1
|
(Orphanet:2750)
|
Otopalatodigital syndrome
|
(Orphanet:669)
|
Paris-Trousseau thrombocytopenia
|
(Orphanet:851)
|
Permanent neonatal diabetes mellitus
|
(Orphanet:99885)
|
Pontocerebellar hypoplasia type 1
|
(Orphanet:2254)
|
Prader-Willi syndrome
|
(Orphanet:739)
|
Proximal symphalangism
|
(Orphanet:3250)
|
Rhizomelic dysplasia, Patterson-Lowry type
|
(Orphanet:2831)
|
Ring chromosome 8
|
(Orphanet:1450)
|
Roberts syndrome
|
(Orphanet:3103)
|
SC PHOCOMELIA SYNDROME
|
(OMIM:269000)
|
SHORT syndrome
|
(Orphanet:3163)
|
Sheldon-Hall syndrome
|
(Orphanet:1147)
|
Short stature - valvular heart disease - characteristic facies
|
(Orphanet:2868)
|
Simpson-Golabi-Behmel syndrome type 2
|
(Orphanet:79022)
|
Syndromic X-linked intellectual deficit due to JARID1C mutation
|
(Orphanet:85279)
|
TARSAL-CARPAL COALITION SYNDROME
|
(OMIM:186570)
|
Thrombocytopenia - Robin sequence
|
(Orphanet:3323)
|
Trisomy 18
|
(Orphanet:3380)
|
Velo-facial-skeletal syndrome
|
(Orphanet:3424)
|
Von Willebrand disease
|
(Orphanet:903)
|
W syndrome
|
(Orphanet:2804)
|
Weaver syndrome
|
(Orphanet:3447)
|
Weaver-Williams syndrome
|
(Orphanet:3448)
|
X-linked intellectual deficit - hypotonic face
|
(Orphanet:73220)
|