| Metadata | |
|---|---|
| ID | DOID:0060409 |
| Name | NFIA-related disorder |
| 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/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
1p31p32 microdeletion syndrome [EXACT] brain malformations with or without urinary tract defects [EXACT] Chromosome 1, Monosomy 1p32 [EXACT] chromosome 1p32-p31 deletion syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a chromosomal deletion syndrome is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has material basis in some deletion and has material basis in some chromosome |