neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
An autosomal dominant neurodevelopmental disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, including ataxia and spasticity, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. Dysmorphic facial features may also be observed. Most patients have early-onset seizures; some may develop a demyelinating peripheral neuropathy. The clinical features suggest involvement of both the central and peripheral nervous systems.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0100500
Mendelian neurodevelopmental disorder
is_a
NEDMILEG
broad
NEDMILEG, AD
exact
neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant
exact
SPBC1773.10c