neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
An autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; 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
NEDMILG, AR
exact
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive
exact
SPBC1773.10c