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DO Term : neurodevelopmental disorder with language delay and seizures [DOID:0070444] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal recessive intellectual developmental disorder characterized by early-onset seizures and global developmental delay with intellectual disability and speech delay that has_material_basis_in homozygous or compound heterozygous mutation in the TIAM1 gene on chromosome 21q22.
  • synonyms:
  • OMIM:619908,
  • 619908
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents