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DO Term : NFIA-related disorder [DOID:0060409] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • OMIM:613735,
  • ICD10CM:Q93.5,
  • 1p31p32 microdeletion syndrome,
  • Chromosome 1, Monosomy 1p32,
  • 613735,
  • MESH:C535594,
  • brain malformations with or without urinary tract defects,
  • ORDO:401986,
  • chromosome 1p32-p31 deletion syndrome
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