Biemond syndrome type 2
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome |
| Number of Symptoms | 9 |
| OrphanetNr: | 141333 |
| OMIM Id: |
210350
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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 recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Malformation syndrome with short stature
-Rare developmental defect during embryogenesis Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit -Rare developmental defect during embryogenesis -Rare genetic disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease |
Symptom Information:
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(HPO:0000612) | Iris coloboma | 116 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0000818) | Abnormality of the endocrine system | 26 / 7739 | ||||
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(HPO:0100258) | Preaxial polydactyly | 39 / 7739 | ||||
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(HPO:0001177) | Preaxial hand polydactyly | 59 / 7739 | ||||
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(HPO:0004322) | Short stature | 1232 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0000238) | Hydrocephalus | 278 / 7739 | ||||
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(OMIM) | Hypogonadaism | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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