MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 21 |
| OrphanetNr: | |
| OMIM Id: |
616171
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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: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000448) | Prominent nose | rare [HPO:skoehler] | 56 / 7739 | |||
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(HPO:0000520) | Proptosis | rare [HPO:skoehler] | 192 / 7739 | |||
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(HPO:0000340) | Sloping forehead | 86 / 7739 | ||||
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(HPO:0000568) | Microphthalmia | 183 / 7739 | ||||
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0000252) | Microcephaly | 832 / 7739 | ||||
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(HPO:0000505) | Visual impairment | 297 / 7739 | ||||
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(HPO:0000482) | Microcornea | 102 / 7739 | ||||
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(HPO:0000488) | Retinopathy | rare [HPO:skoehler] | 75 / 7739 | |||
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(HPO:0000648) | Optic atrophy | rare [HPO:skoehler] | 238 / 7739 | |||
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(HPO:0000543) | Optic disc pallor | rare [HPO:skoehler] | 67 / 7739 | |||
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(HPO:0000518) | Cataract | 454 / 7739 | ||||
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(HPO:0007401) | Macular atrophy | rare [HPO:skoehler] | 14 / 7739 | |||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001250) | Seizures | rare [HPO:skoehler] | 1245 / 7739 | |||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0001511) | Intrauterine growth retardation | 358 / 7739 | ||||
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(HPO:0004322) | Short stature | 1232 / 7739 | ||||
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(HPO:0009879) | Cortical gyral simplification | 24 / 7739 | ||||
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(HPO:0001272) | Cerebellar atrophy | 197 / 7739 | ||||
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(HPO:0002059) | Cerebral atrophy | 171 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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