Nicolaides-Baraitser syndrome
Information
- Disease name
- Nicolaides-Baraitser syndrome
- Disease ID
- DOID:0081441
- Description
- "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." [url:https\://pubmed.ncbi.nlm.nih.gov/19606471/, url:https\://www.ncbi.nlm.nih.gov/books/NBK321516/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:270
- Cross Reference ID (Disease Ontology)
- MIM:601358
- Cross Reference ID (Disease Ontology)
- ORDO:3051
- Exact Synonym (Disease Ontology)
- Intellectual disability-sparse hair-brachydactyly syndrome
- Exact Synonym (Disease Ontology)
- SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
- MedGen concept unique identifier (MedGen Concept name)
- C1303073
- MedGen unique identifier (MedGen Concept name)
- 220983