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Human Disease

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
Ontology
Human Disease   ( DOID:0060409 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models