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neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive

Disease Summary
Associated Targets (1)
Tclin

1


Uniprot Description An autosomal recessive neurodevelopmental disorder characterized by severe mental retardation and psychomotor developmental delay, involuntary and stereotypic movements, spasticity, and inability to walk without support. Intractable seizures manifest in some patients.
Mondo Term and Equivalent IDs
MONDO:0060629:  neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
UMLS:CN737161: