Search Ontology:
Human Disease
autosomal dominant intellectual developmental disorder 68
- Term ID
- DOID:0061041
- Synonyms
-
- Definition
- An autosomal dominant intellectual developmental disorder characterized by developmental delay/intellectual disability, primary autosomal recessive microcephaly , poor growth, feeding difficulties, and dysmorphic features that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19q13. https://pubmed.ncbi.nlm.nih.gov/33150406/
- References
- Ontology
- Human Disease ( DOID:0061041 )
- is a type of
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Genes Involved
| Human Gene | Zebrafish Ortholog | OMIM Term | Disease | OMIM Phenotype ID |
|---|---|---|---|---|
| KMT2B | Intellectual developmental disorder, autosomal dominant 68 | autosomal dominant intellectual developmental disorder 68 | 619934 |
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Zebrafish Models