Distal monosomy 13q
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Distal 13q deletion 13q32 deletion Telomeric 13q deletion Monosomy 13q32 Deletion 13q32 |
| Number of Symptoms | 22 |
| OrphanetNr: | 1590 |
| OMIM Id: |
602553
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| ICD-10: |
Q93.5 |
| UMLs: |
C2930913 |
| 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: |
Chromosomal anomaly with cataract
-Rare eye disease -Rare genetic disease Partial deletion of the long arm of chromosome 13 -Rare developmental defect during embryogenesis -Rare genetic disease Syndromic anorectal malformation -Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0000062) | Ambiguous genitalia | Occasional [Orphanet] | 74 / 7739 | |||
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(HPO:0008678) | Renal hypoplasia/aplasia | Occasional [Orphanet] | 127 / 7739 | |||
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(HPO:0000069) | Abnormality of the ureter | Occasional [Orphanet] | 47 / 7739 | |||
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(HPO:0002084) | Encephalocele | Occasional [Orphanet] | 70 / 7739 | |||
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(HPO:0000316) | Hypertelorism | Occasional [Orphanet] | 644 / 7739 | |||
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(HPO:0000252) | Microcephaly | Occasional [Orphanet] | 832 / 7739 | |||
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(HPO:0008056) | Aplasia/Hypoplasia affecting the eye | Occasional [Orphanet] | 142 / 7739 | |||
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(HPO:0000612) | Iris coloboma | Occasional [Orphanet] | 116 / 7739 | |||
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(HPO:0001276) | Hypertonia | Occasional [Orphanet] | 317 / 7739 | |||
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(HPO:0008207) | Primary adrenal insufficiency | Occasional [Orphanet] | 26 / 7739 | |||
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(HPO:0001155) | Abnormality of the hand | Occasional [Orphanet] | 54 / 7739 | |||
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(HPO:0001163) | Abnormality of the metacarpal bones | Occasional [Orphanet] | 149 / 7739 | |||
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(HPO:0003312) | Abnormal form of the vertebral bodies | Occasional [Orphanet] | 172 / 7739 | |||
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(HPO:0009601) | Aplasia/Hypoplasia of the thumb | Occasional [Orphanet] | 80 / 7739 | |||
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(HPO:0002023) | Anal atresia | Occasional [Orphanet] | 135 / 7739 | |||
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(HPO:0004322) | Short stature | Occasional [Orphanet] | 1232 / 7739 | |||
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(HPO:0004760) | Congenital septal defect | Occasional [Orphanet] | 69 / 7739 | |||
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(HPO:0002323) | Anencephaly | Occasional [Orphanet] | 28 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Occasional [Orphanet] | 949 / 7739 | |||
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(HPO:0007370) | Aplasia/Hypoplasia of the corpus callosum | Occasional [Orphanet] | 180 / 7739 | |||
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(HPO:0012443) | Abnormality of brain morphology | Occasional [Orphanet] | 45 / 7739 | |||
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(HPO:0012795) | Abnormality of the optic disc | Occasional [Orphanet] | 187 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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