Term Name: | NFIA-related disorder |
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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 ) |