| syndroom van verstandelijke beperking, cataract en kyfose (aandoening) DEPRECATED | | syndroom van verstandelijke beperking, cataract en kyfose | | syndroom van verstandelijke handicap, cataract en kyfose
syndroom van mentale retardatie, cataract en kyfose
| | Intellectual disability with cataract and kyphosis syndrome | | This syndrome has characteristics of severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence. The syndrome has been described in three siblings. The two brothers also presented with iris coloboma. Other clinical findings include contractures of large joints, bulbous nose with broad nasal bridge, and thick lips. The disease is linked to the pericentromeric region of chromosome 4. Transmission is autosomal recessive. |
| | Id | 722003007 | | Status | Primitive |
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