neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities (DOID:0081387)
Alliance: disease page
Alt IDs: OMIM:620428
Definition: An autosomal recessive intellectual developmental disorder that is characterized by the onset of features in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the INTS11 gene on chromosome 1p36.