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

MONDO:0019418

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.

0 clinical trials for this condition and its sub-types, 0 tagged with X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome itself.

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↑ Congenital nervous system disorder (284) ↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59) ↑ X-linked syndromic intellectual disability (12)

Including sub-types (0) Tagged with X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome (0)

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