Nicolaides-Baraitser syndrome

info · Syndrome

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.

Signs and symptoms

Seizure
Intellectual disability
Sandal gap
Triangular face
Wide mouth
Sparse scalp hair
Thick lower lip vermilion
Broad philtrum
Anteverted nares
Long philtrum

Also known as: Intellectual disability-sparse hair-brachydactyly syndrome; SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME