Vein of Galen aneurysmal malformation |
1053 |
A congenital vascular malformation… |
Orphanet, OMIM, MeSH, ICD-10 |
Blue rubber bleb nevus |
1059 |
A rare vascular malformation disorder… |
Orphanet, MeSH, OMIM, ICD-10 |
NON RARE IN EUROPE: Autism |
106 |
|
Orphanet |
Tufted angioma |
1063 |
A rare vascular tumour that may be… |
Orphanet, OMIM, MeSH, ICD-10 |
Aniridia-cerebellar ataxia-intellectual disability syndrome |
1065 |
A rare, congenital, neurological… |
Orphanet, OMIM, ICD-10 |
BOR syndrome |
107 |
A rare otomandibular dysplasia syndrome… |
Orphanet, MeSH, OMIM, OMIM, ICD-10, MedDRA |
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome |
1071 |
An ectodermal dysplasia syndrome with… |
Orphanet, MeSH, ICD-10, OMIM |
Ankyloblepharon filiforme adnatum-cleft palate syndrome |
1072 |
A rare, syndromic, developmental defect… |
Orphanet, OMIM, ICD-10, MeSH |
Microlissencephaly |
1083 |
Microlissencephaly describes a… |
Orphanet, ICD-10, OMIM, OMIM |
Bannayan-Riley-Ruvalcaba syndrome |
109 |
A rare developmental defect during… |
Orphanet, ICD-10, OMIM |
Bardet-Biedl syndrome |
110 |
A rare genetic multisystem disorder… |
Orphanet, MeSH, MedDRA, ICD-10, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM |
Microphthalmia with limb anomalies |
1106 |
A rare developmental disorder… |
Orphanet, OMIM, ICD-10 |
Barth syndrome |
111 |
Barth syndrome (BTHS) is an inborn… |
Orphanet, MeSH, ICD-10, OMIM |
Aplasia cutis congenita |
1114 |
A rare skin disorder characterized by… |
Orphanet, OMIM, MeSH, ICD-10, OMIM |
Arnold-Chiari malformation type II |
1136 |
A rare, central nervous system… |
Orphanet, OMIM, MedDRA, ICD-10 |
Neurogenic arthrogryposis multiplex congenita |
1143 |
A form of arthrogryposis multiplex… |
Orphanet, MeSH, ICD-10, OMIM |
Infantile-onset X-linked spinal muscular atrophy |
1145 |
A rare form of spinal muscular atrophy… |
Orphanet, MeSH, ICD-10, OMIM |
Distal arthrogryposis type 1 |
1146 |
A form of arthrogryposis characterized… |
Orphanet, OMIM, ICD-10, OMIM, OMIM, OMIM, OMIM |
Sheldon-Hall syndrome |
1147 |
Sheldon-Hall syndrome (SHS) is a rare… |
Orphanet, OMIM, OMIM, OMIM, ICD-10 |
Kuskokwim syndrome |
1149 |
A very rare congenital contracture… |
Orphanet, OMIM, ICD-10 |