neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities

Term ID

DOID:0081387

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. https://pubmed.ncbi.nlm.nih.gov/37054711/

References

• OMIM:620428

Ontology

Human Disease   ( DOID:0081387 )