8p11.2 deletion syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Del(8)(p11.2) Monosomy 8p11.2 |
| Number of Symptoms | 34 |
| OrphanetNr: | 251066 |
| OMIM Id: |
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| ICD-10: |
Q93.5 |
| 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: |
Unknown Not applicable [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Partial deletion of the short arm of chromosome 8
-Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0008669) | Abnormal spermatogenesis | Frequent [Orphanet] | 11 / 7739 | |||
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(HPO:0000054) | Micropenis | Very frequent [Orphanet] | 257 / 7739 | |||
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(HPO:0000035) | Abnormality of the testis | Very frequent [Orphanet] | 296 / 7739 | |||
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(HPO:0000581) | Blepharophimosis | Occasional [Orphanet] | 197 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0000286) | Epicanthus | Occasional [Orphanet] | 371 / 7739 | |||
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(HPO:0005280) | Depressed nasal bridge | Occasional [Orphanet] | 381 / 7739 | |||
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(HPO:0009796) | Branchial cyst | Frequent [Orphanet] | 32 / 7739 | |||
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(HPO:0002705) | High, narrow palate | Frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0000582) | Upslanted palpebral fissure | Occasional [Orphanet] | 185 / 7739 | |||
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(HPO:0004408) | Abnormality of the sense of smell | Occasional [Orphanet] | 28 / 7739 | |||
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(HPO:0000252) | Microcephaly | Frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0000316) | Hypertelorism | Occasional [Orphanet] | 644 / 7739 | |||
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(HPO:0000639) | Nystagmus | Frequent [Orphanet] | 555 / 7739 | |||
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(HPO:0000612) | Iris coloboma | Occasional [Orphanet] | 116 / 7739 | |||
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(HPO:0000479) | Abnormality of the retina | Occasional [Orphanet] | 74 / 7739 | |||
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(HPO:0000482) | Microcornea | Occasional [Orphanet] | 102 / 7739 | |||
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(HPO:0000356) | Abnormality of the outer ear | Frequent [Orphanet] | 85 / 7739 | |||
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(HPO:0001250) | Seizures | Occasional [Orphanet] | 1245 / 7739 | |||
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(HPO:0008373) | Puberty and gonadal disorders | Very frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0000921) | Missing ribs | Occasional [Orphanet] | 62 / 7739 | |||
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(HPO:0010769) | Pilonidal sinus | Occasional [Orphanet] | 35 / 7739 | |||
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(HPO:0001762) | Talipes equinovarus | Occasional [Orphanet] | 309 / 7739 | |||
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(HPO:0001744) | Splenomegaly | Occasional [Orphanet] | 337 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Occasional [Orphanet] | 492 / 7739 | |||
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(HPO:0001631) | Atria septal defect | Occasional [Orphanet] | 274 / 7739 | |||
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(HPO:0001633) | Abnormality of the mitral valve | Occasional [Orphanet] | 69 / 7739 | |||
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(HPO:0001643) | Patent ductus arteriosus | Occasional [Orphanet] | 228 / 7739 | |||
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(HPO:0001878) | Hemolytic anemia | Very frequent [Orphanet] | 83 / 7739 | |||
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(HPO:0004447) | Poikilocytosis | Very frequent [Orphanet] | 16 / 7739 | |||
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(HPO:0003220) | Abnormality of chromosome stability | Very frequent [Orphanet] | 98 / 7739 | |||
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(HPO:0040075) | Hypopituitarism | Very frequent [Orphanet] | 32 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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