NFIA-related disorder

Term ID

DOID:0060409

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. https://www.ncbi.nlm.nih.gov/books/NBK542336/

References

• ICD10CM:Q93.5
• MESH:C535594
• OMIM:613735
• ORDO:401986

Ontology

Human Disease   ( DOID:0060409 )