Nicolaides-Baraitser syndrome (DOID:0081441)
Alliance: disease page
Synonyms: Intellectual disability-sparse hair-brachydactyly syndrome; SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
Alt IDs: OMIM:601358, ORDO:3051
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.