Search Ontology:
Human Disease
Nicolaides-Baraitser syndrome
- Term ID
- DOID:0081441
- Synonyms
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- 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. (2)
- References
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- GARD:270
- MIM:601358
- ORDO:3051
- Ontology
- Human Disease ( DOID:0081441 )
- is a type of
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Genes Involved
Zebrafish Models