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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/616007
http://purl.bioontology.org/ontology/OMIM/616007
|
|---|---|
| Preferred Name | CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA |
| Synonyms |
CAGSSS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CAGSSS
|
|---|---|
| prefLabel | CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
|
| Gene Symbol |
IARS2
CAGSSS
|
| notation | 616007
|
| Scope Statement | Family A presented with early-onset intractable seizures and cortical abnormalities [MISCELLANEOUS]
Not all patients have all features [MISCELLANEOUS]
Caused by mutation in the isoleucyl-tRNA synthetase 2 gene (IARS2, 612801.0001) [MOLECULAR BASIS]
Onset in infancy, but features may appear over time [MISCELLANEOUS]
Highly variable phenotype [MISCELLANEOUS]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 1q41
|
| tui | T047
|
| cui | C4014942
|
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