3C syndrome
|
(Orphanet:7)
|
Acrocallosal syndrome
|
(Orphanet:36)
|
Acroosteolysis, dominant type
|
(Orphanet:955)
|
Atelosteogenesis type III
|
(Orphanet:56305)
|
Autosomal dominant spondylocostal dysostosis
|
(Orphanet:1797)
|
Autosomal recessive spondylocostal dysostosis
|
(Orphanet:2311)
|
Beckwith-Wiedemann syndrome
|
(Orphanet:116)
|
Blepharophimosis-intellectual deficit syndrome, SBBYS type
|
(Orphanet:3047)
|
Blepharophimosis-intellectual deficit syndrome, Verloes type
|
(Orphanet:293725)
|
Blepharoptosis - myopia - ectopia lentis
|
(Orphanet:1259)
|
Char syndrome
|
(Orphanet:46627)
|
Cranioectodermal dysplasia
|
(Orphanet:1515)
|
Delayed membranous cranial ossification
|
(Orphanet:3034)
|
Eye defects - arachnodactyly - cardiopathy
|
(Orphanet:2725)
|
FEINGOLD SYNDROME 1
|
(OMIM:164280)
|
Feingold syndrome
|
(Orphanet:1305)
|
Fetal brain disruption sequence
|
(Orphanet:1665)
|
GCS1-CDG
|
(Orphanet:79330)
|
Isolated Dandy-Walker malformation
|
(Orphanet:217)
|
Isolated scaphocephaly
|
(Orphanet:35093)
|
Isotretinoin-like syndrome
|
(Orphanet:2306)
|
Kenny-Caffey syndrome
|
(Orphanet:2333)
|
Linear nevus sebaceus syndrome
|
(Orphanet:2612)
|
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
|
(OMIM:210710)
|
Megalencephaly
|
(Orphanet:2477)
|
Menkes disease
|
(Orphanet:565)
|
Microcephalic osteodysplastic primordial dwarfism types 1 and 3
|
(Orphanet:2636)
|
Mosaic trisomy 9
|
(Orphanet:99776)
|
Mucolipidosis type 3
|
(Orphanet:577)
|
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
|
(Orphanet:300496)
|
Neu-Laxova syndrome
|
(Orphanet:2671)
|
Orofaciodigital syndrome type 3
|
(Orphanet:2752)
|
Osteogenesis imperfecta
|
(Orphanet:666)
|
Otopalatodigital syndrome
|
(Orphanet:669)
|
Otopalatodigital syndrome type 1
|
(Orphanet:90650)
|
Penoscrotal transposition
|
(Orphanet:2842)
|
Pycnodysostosis
|
(Orphanet:763)
|
Syndromic multisystem autoimmune disease due to Itch deficiency
|
(Orphanet:228426)
|
Trichomegaly - retina pigmentary degeneration - dwarfism
|
(Orphanet:3363)
|
Trisomy 18
|
(Orphanet:3380)
|
Tuberous sclerosis
|
(Orphanet:805)
|
Ulbright-Hodes syndrome
|
(Orphanet:3404)
|
Wrinkly skin syndrome
|
(Orphanet:2834)
|