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Disease Ontology Browser
NFIA-related disorder (DOID:0060409)
Alliance: disease page
Synonyms: 1p31p32 microdeletion syndrome; brain malformations with or without urinary tract defects; Chromosome 1, Monosomy 1p32; chromosome 1p32-p31 deletion syndrome
Alt IDs: OMIM:613735, ICD10CM:Q93.5, MESH:C535594, ORDO:401986
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
09/27/2022
MGI 6.21
The Jackson Laboratory