NFIA-related disorder

Summary

DOID:0060409 - NFIA-related disorder

Disease Ontology 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.

Synonyms: 1p31p32 microdeletion syndrome, brain malformations with or without urinary tract defects, Chromosome 1, Monosomy 1p32, chromosome 1p32-p31 deletion syndrome

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: nfia

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013396 - chromosome 1p32-p31 deletion syndrome

MONDO:0013396 - chromosome 1p32-p31 deletion syndrome

MIM:

MIM:613735 - BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS; BRMUTD

MIM:613735 - BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS; BRMUTD

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), chromosomal deletion syndrome (is_a), syndrome (is_a)