MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 8 |
OrphanetNr: | |
OMIM Id: |
616051
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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:0000311) | Round face | 104 / 7739 | ||||
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0000448) | Prominent nose | 56 / 7739 | ||||
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(HPO:0000340) | Sloping forehead | 86 / 7739 | ||||
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(HPO:0000252) | Microcephaly | 832 / 7739 | ||||
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(HPO:0200055) | Small hand | 71 / 7739 | ||||
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(HPO:0001773) | Short foot | 86 / 7739 | ||||
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(HPO:0001511) | Intrauterine growth retardation | 358 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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