Xp22.3 microdeletion syndrome
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Del(X)(p23)
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Number of Symptoms
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12
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OrphanetNr:
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1643
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OMIM Id:
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ICD-10:
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Q99.8
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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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Partial monosomy of the short arm of chromosome X
-Rare developmental defect during embryogenesis
-Rare genetic disease
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1
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(HPO:0000869)
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Secondary amenorrhea |
Very frequent [Orphanet]
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42 / 7739
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2
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(HPO:0000137)
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Abnormality of the ovary |
Frequent [Orphanet]
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41 / 7739
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3
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(HPO:0000789)
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Infertility |
Frequent [Orphanet]
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74 / 7739
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4
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(HPO:0000481)
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Abnormality of the cornea |
Frequent [Orphanet]
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124 / 7739
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5
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(HPO:0000545)
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Myopia |
Frequent [Orphanet]
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286 / 7739
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6
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(HPO:0008056)
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Aplasia/Hypoplasia affecting the eye |
Frequent [Orphanet]
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142 / 7739
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7
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(HPO:0008373)
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Puberty and gonadal disorders |
Frequent [Orphanet]
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156 / 7739
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8
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(HPO:0010769)
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Pilonidal sinus |
Occasional [Orphanet]
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35 / 7739
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9
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(HPO:0001545)
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Anteriorly placed anus |
Occasional [Orphanet]
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55 / 7739
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10
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(HPO:0004322)
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Short stature |
Very frequent [Orphanet]
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1232 / 7739
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11
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(HPO:0008065)
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Aplasia/Hypoplasia of the skin |
Frequent [Orphanet]
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81 / 7739
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12
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(HPO:0001428)
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Somatic mutation |
Very frequent [Orphanet]
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100 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |