Extrasystoles - short stature - hyperpigmentation - microcephaly
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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13
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OrphanetNr:
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1964
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OMIM Id:
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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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Autosomal dominant 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:0009804)
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Reduced number of teeth |
Very frequent [Orphanet]
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137 / 7739
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2
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(HPO:0000316)
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Hypertelorism |
Very frequent [Orphanet]
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644 / 7739
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3
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(HPO:0000252)
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Microcephaly |
Frequent [Orphanet]
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832 / 7739
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4
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(HPO:0000277)
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Abnormality of the mandible |
Frequent [Orphanet]
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394 / 7739
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5
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(HPO:0000486)
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Strabismus |
Frequent [Orphanet]
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576 / 7739
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6
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(HPO:0000954)
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Single transverse palmar crease |
Frequent [Orphanet]
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162 / 7739
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7
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(HPO:0002750)
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Delayed skeletal maturation |
Frequent [Orphanet]
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250 / 7739
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8
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(HPO:0004322)
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Short stature |
Frequent [Orphanet]
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1232 / 7739
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9
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(HPO:0007400)
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Irregular hyperpigmentation |
Very frequent [Orphanet]
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72 / 7739
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10
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(HPO:0007477)
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Abnormal dermatoglyphics |
Very frequent [Orphanet]
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72 / 7739
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11
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(HPO:0011675)
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Arrhythmia |
Very frequent [Orphanet]
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226 / 7739
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12
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(HPO:0011025)
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Abnormality of cardiovascular system physiology |
Very frequent [Orphanet]
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41 / 7739
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13
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(HPO:0012758)
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Neurodevelopmental delay |
Very frequent [Orphanet]
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949 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |