Search Ontology:
Human Disease
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
- Term ID
- DOID:0070346
- Synonyms
-
- Definition
- A syndrome that is characterized by impaired intellectual development with absent language and short stature and that has_material_basis_in homozygous mutation in the INTS1 gene on chromosome 7p22. https://www.ncbi.nlm.nih.gov/pubmed/618571
- References
- Ontology
- Human Disease ( DOID:0070346 )
- is a type of
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Genes Involved
| Human Gene | Zebrafish Ortholog | OMIM Term | Disease | OMIM Phenotype ID |
|---|---|---|---|---|
| INTS1 | Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies | neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies | 618571 |
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Zebrafish Models
| Fish | Conditions | Disease | Citation |
|---|---|---|---|
| ints1s4002b/+; ints1s4002a/+ | standard conditions | neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies | Krall et al., 2019 |
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