Search Ontology:
Human Disease
autosomal dominant intellectual developmental disorder 67
- Term ID
- DOID:0061040
- Synonyms
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- Definition
- An autosomal dominant intellectual developmental disorder characterized by global developmental delay with variably impaired intellectual development apparent from infancy or early childhood that has_material_basis_in heterozygous mutation in the GRIA1 gene on chromosome 5q33. https://pubmed.ncbi.nlm.nih.gov/35675825/
- References
- Ontology
- Human Disease ( DOID:0061040 )
- is a type of
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