Version: 8.0.0
Date: Tue Jan 28 2025
Nicolaides-Baraitser syndrome
DOID:0081441
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
  • Intellectual disability-sparse hair-brachydactyly syndrome
  • SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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