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Nicolaides-Baraitser syndrome
Summary
- Synonym
-
- Intellectual disability-sparse hair-brachydactyly syndrome
- SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT 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.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0081441
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
