Term Name: | Nicolaides-Baraitser syndrome |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0081441] ( DOID:0081441 ) |