Term Name: | neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0081387] ( DOID:0081387 ) |