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NFIA-related disorder
Summary
- Synonym
-
- 1p31p32 microdeletion syndrome
- Chromosome 1, Monosomy 1p32
- brain malformations with or without urinary tract defects
- 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.
- Super Class
- autosomal dominant disease chromosomal deletion syndrome syndrome
External Links
- Disease Ontology
- DOID:0060409
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04156 | Major prion protein | |
| P43034 | Platelet-activating factor acetylhydrolase IB subunit beta | |
| Q5H8C1 | FRAS1-related extracellular matrix protein 1 |
