| Metadata | |
|---|---|
| ID | DOID:0081441 |
| Name | Nicolaides-Baraitser syndrome |
| Definition | A syndrome that is characterized by severely impaired intellectual development, early-onset seizures, short stature, dysmorphic facial features, and sparse hair and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24. https://pubmed.ncbi.nlm.nih.gov/19606471/, https://www.ncbi.nlm.nih.gov/books/NBK321516/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Intellectual disability-sparse hair-brachydactyly syndrome [EXACT] SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME [EXACT] |
| Parent Relationships |
is_a syndrome |