| Term Name: | neurodevelopmental disorder with white matter abnormalities and gait disturbance |
|---|---|
| Synonyms: | NEDWMG |
| Definition: | An autosomal recessive intellectual developmental disorder characterized by macrocephaly, global developmental delay, impaired intellectual development, seizures, behavioral abnormalities, hypotonia, and gait disturbance that has_material_basis_in homozygous or compound heterozygous mutation in the FAM177A1 gene on chromosome 14q13. |
| Ontology: | Human Disease [DOID:0070820] ( DOID:0070820 ) |