MENTAL RETARDATION, AUTOSOMAL DOMINANT 18
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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10
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OrphanetNr:
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OMIM Id:
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615074
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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:
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Prevalence:
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No data available.
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Inheritance:
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0000322)
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Short philtrum |
4/4 [HPO:probinson]
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130 / 7739
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2
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(HPO:0000455)
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Broad nasal tip |
4/4 [HPO:probinson]
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67 / 7739
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3
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(HPO:0000486)
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Strabismus |
4/4 [HPO:probinson]
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576 / 7739
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4
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(HPO:0010864)
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Intellectual disability, severe |
4/4 [HPO:probinson]
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120 / 7739
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5
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(HPO:0000748)
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Inappropriate laughter |
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5 / 7739
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6
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(HPO:0001263)
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Global developmental delay |
4/4 [HPO:probinson]
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853 / 7739
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7
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(HPO:0002463)
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Language impairment |
4/4 [HPO:probinson]
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15 / 7739
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8
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(HPO:0008070)
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Sparse hair |
4/4 [HPO:probinson]
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94 / 7739
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9
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(HPO:0001319)
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Neonatal hypotonia |
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101 / 7739
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10
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(HPO:0000006)
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Autosomal dominant inheritance |
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2518 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |