Human genes for NFIA-related disorder
NFIA-related disorder [DOID:0060409]
A syndrome that has_material_basis_in heterozygous mutation in the NFIA gene on chromosome 1p31 and that is characterized by macrocephaly, seizures, developmental delay, dysmorphic features, ventriculomegaly, and hypotonia.
Synonyms: NFIA-related disorder, DOID:0060409, NFIArelated disorder, NFIA-related disease, NFIA-related syndrome ...