Search Ontology:
Human Disease
NFIA-related disorder
- Term ID
- DOID:0060409
- Synonyms
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- 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
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- ICD10CM:Q93.5
- MESH:C535594
- MIM:613735
- ORDO:401986
- Ontology
- Human Disease ( DOID:0060409 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models