Details of Disease
General Information of Disease (ID: DISKI679)
Disease Name | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | |||||
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Synonyms | neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive; NEDMILG, AR | |||||
Definition |
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.
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Molecular Interaction Atlas (MIA) of This Disease
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This Disease Is Related to 1 DOT Molecule(s)
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