neurodevelopmental disorder with white matter abnormalities and gait disturbance

Term ID

DOID:0070820

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. https://omim.org/entry/621152#2

References

• MIM:621152
• UMLS_CUI:C6012709

Ontology

Human Disease   ( DOID:0070820 )