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Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities

Disease ID: disease_node_16376

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DbxrefMIM:620428
SubclassofDOID_0060308
Data SourceDOID
Doid Labelneurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities
Doid DescriptionAn 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.
Existence Starts DuringHP_0003593, HP_0011463
Disease Node Iddisease_node_16376
Doid IdDOID_0081387
LabelNeurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities