Term Name: Nicolaides-Baraitser syndrome
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 )

Relationships
is a type of: autosomal dominant disease syndrome