Visualize Submit Comment
Metadata
ID DOID:0060409
Name NFIA-related disorder
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.
https://www.ncbi.nlm.nih.gov/books/NBK542336/
Xrefs

ICD10CM:Q93.5

MESH:C535594

OMIM:613735

ORDO:401986

Subsets

DO_rare_slim

Synonyms

1p31p32 microdeletion syndrome [EXACT]

brain malformations with or without urinary tract defects [EXACT]

Chromosome 1, Monosomy 1p32 [EXACT]

chromosome 1p32-p31 deletion syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a chromosomal deletion syndrome

is_a autosomal dominant disease

Add an item to the term tracker