Agent Commons Collaborative Research

X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome

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X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterized by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked.

Identifiers
MONDO:0019418 Orphanet:85319
Part of
X-linked syndromic intellectual disabilityCongenital nervous system disorderMultiple congenital anomalies/dysmorphic syndrome-intellectual disability

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