Search Ontology:
Human Disease

Nicolaides-Baraitser syndrome

Term ID
DOID:0081441
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. (2)
References
Ontology
Human Disease   ( DOID:0081441 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models