15q24 microdeletion syndrome
|
(Orphanet:94065)
|
16p11.2p12.2 microdeletion syndrome
|
(Orphanet:261211)
|
16p13.3 microduplication syndrome
|
(Orphanet:96078)
|
16q24.3 microdeletion syndrome
|
(Orphanet:261250)
|
8p23.1 microdeletion syndrome
|
(Orphanet:251071)
|
Aicardi syndrome
|
(Orphanet:50)
|
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA
|
(OMIM:609945)
|
Blepharophimosis - radioulnar synostosis
|
(Orphanet:1256)
|
Blepharophimosis-intellectual deficit syndrome, Verloes type
|
(Orphanet:293725)
|
Brachydactyly type B2
|
(Orphanet:140908)
|
Branchio-oculo-facial syndrome
|
(Orphanet:1297)
|
CHROMOSOME 17p13.1 DELETION SYNDROME
|
(OMIM:613776)
|
CODAS syndrome
|
(Orphanet:1458)
|
CORNELIA DE LANGE SYNDROME 1
|
(OMIM:122470)
|
CORNELIA DE LANGE SYNDROME 2
|
(OMIM:300590)
|
CORNELIA DE LANGE SYNDROME 3
|
(OMIM:610759)
|
CORNELIA DE LANGE SYNDROME 5
|
(OMIM:300882)
|
CRANIOSYNOSTOSIS WITH ANOMALIES OF THE CRANIAL BASE AND DIGITS
|
(OMIM:218530)
|
Cloverleaf skull - multiple congenital anomalies
|
(Orphanet:93267)
|
Cooper-Jabs syndrome
|
(Orphanet:1488)
|
Cornelia de Lange syndrome
|
(Orphanet:199)
|
Diastrophic dwarfism
|
(Orphanet:628)
|
EEC syndrome
|
(Orphanet:1896)
|
Epiphyseal dysplasia - hearing loss - dysmorphism
|
(Orphanet:1825)
|
Fryns syndrome
|
(Orphanet:2059)
|
Hand-foot-genital syndrome
|
(Orphanet:2438)
|
Hirsutism - skeletal dysplasia - intellectual deficit
|
(Orphanet:2156)
|
Intellectual deficit, X-linked - seizures - psoriasis
|
(Orphanet:3052)
|
Intellectual disability-developmental delay-contractures syndrome
|
(Orphanet:3454)
|
Lung agenesis - heart defect - thumb anomalies
|
(Orphanet:1120)
|
MGAT2-CDG
|
(Orphanet:79329)
|
Mandibulofacial dysostosis-microcephaly syndrome
|
(Orphanet:79113)
|
Microphthalmia with brain and digit anomalies
|
(Orphanet:139471)
|
Monosomy 18q
|
(Orphanet:1600)
|
Monosomy 9p
|
(Orphanet:261112)
|
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET
|
(OMIM:616263)
|
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
|
(Orphanet:363972)
|
Otopalatodigital syndrome type 1
|
(Orphanet:90650)
|
Peters-plus syndrome
|
(Orphanet:709)
|
Pierre Robin syndrome - faciodigital anomaly
|
(Orphanet:2888)
|
Pterygium colli - intellectual deficit - digital anomalies
|
(Orphanet:2988)
|
Richieri Costa-Pereira syndrome
|
(Orphanet:3102)
|
Ruvalcaba syndrome
|
(Orphanet:3121)
|
Short stature - heart defect - craniofacial anomalies
|
(Orphanet:1088)
|
Smith-Lemli-Opitz syndrome
|
(Orphanet:818)
|
Split hand - urinary anomalies - spina bifida
|
(Orphanet:2437)
|
Toriello-Carey syndrome
|
(Orphanet:3338)
|
VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
|
(OMIM:314390)
|
WEYERS ULNAR RAY/OLIGODACTYLY SYNDROME
|
(OMIM:602418)
|
X-linked distal arthrogryposis multiplex congenita
|
(Orphanet:1145)
|