OBO ID: DOID:0060409
Term Name: NFIA-related disorder Search Ontology:
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:
Ontology: Human Disease   ( DOID:0060409 )
OTHER NFIA-related disorder PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NFIA Brain malformations with or without urinary tract defects 613735
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)