Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 15 |
| OrphanetNr: | 363741 |
| OMIM Id: |
601794
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-Rare developmental defect during embryogenesis -Rare genetic disease Syndromic microphthalmia -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease Syndromic obesity -Rare developmental defect during embryogenesis -Rare endocrine disease -Rare genetic disease |
Symptom Information:
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(HPO:0000028) | Cryptorchidism | 347 / 7739 | ||||
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(HPO:0000135) | Hypogonadism | 89 / 7739 | ||||
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(HPO:0000568) | Microphthalmia | 183 / 7739 | ||||
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(HPO:0000518) | Cataract | 454 / 7739 | ||||
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(HPO:0000480) | Retinal coloboma | 16 / 7739 | ||||
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(HPO:0000510) | Rod-cone dystrophy | 266 / 7739 | ||||
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(HPO:0006889) | Intellectual disability, borderline | 6 / 7739 | ||||
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(HPO:0000771) | Gynecomastia | 53 / 7739 | ||||
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(HPO:0001513) | Obesity | 172 / 7739 | ||||
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(OMIM) | Interhemispheric arachnoid cyst | 1 / 7739 | ||||
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(OMIM) | Atypical retinitis pigmentosa | 3 / 7739 | ||||
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(OMIM) | Borderline intelligence/mental retardation Hydrocephalus | 1 / 7739 | ||||
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(HPO:0000238) | Hydrocephalus | 278 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Coloboma of retina | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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