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

• GARD:270
• MIM:601358
• ORDO:3051

Ontology

Human Disease   ( DOID:0081441 )