Term Name: NFIA-related disorder
Synonyms: 1p31p32 microdeletion syndrome, brain malformations with or without urinary tract defects, Chromosome 1, Monosomy 1p32, chromosome 1p32-p31 deletion syndrome
Definition: 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.
Ontology: Human Disease [DOID:0060409]   ( DOID:0060409 )

Relationships
is a type of: autosomal dominant disease chromosomal deletion syndrome syndrome