X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome
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.
MONDO:0002320
congenital nervous system disorder
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MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
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MONDO:0020119
X-linked syndromic intellectual disability
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