Distal monosomy 9p
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Distal deletion 9p Monosomy 9pter Telomeric deletion 9p |
| Number of Symptoms | 27 |
| OrphanetNr: | 1642 |
| 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: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Partial deletion of the short arm of chromosome 9
-Rare developmental defect during embryogenesis -Rare genetic disease Syndrome with 46,XY disorder of sex development -Rare developmental defect during embryogenesis -Rare endocrine disease -Rare genetic disease -Rare urogenital disease Syndrome with disorder of sex development of gynecological interest -Rare genetic disease -Rare gynecologic or obstetric disease |
Symptom Information:
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(HPO:0000047) | Hypospadias | Frequent [Orphanet] | 250 / 7739 | |||
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(HPO:0011800) | Midface retrusion | Very frequent [Orphanet] | 221 / 7739 | |||
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(HPO:0002705) | High, narrow palate | Very frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0000470) | Short neck | Very frequent [Orphanet] | 345 / 7739 | |||
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(HPO:0000431) | Wide nasal bridge | Very frequent [Orphanet] | 290 / 7739 | |||
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(HPO:0000286) | Epicanthus | Frequent [Orphanet] | 371 / 7739 | |||
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(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0000582) | Upslanted palpebral fissure | Very frequent [Orphanet] | 185 / 7739 | |||
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(HPO:0000243) | Trigonocephaly | Very frequent [Orphanet] | 40 / 7739 | |||
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(HPO:0000174) | Abnormality of the palate | Occasional [Orphanet] | 298 / 7739 | |||
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(HPO:0003196) | Short nose | Very frequent [Orphanet] | 264 / 7739 | |||
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(HPO:0000164) | Abnormality of the teeth | Frequent [Orphanet] | 291 / 7739 | |||
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(HPO:0000520) | Proptosis | Very frequent [Orphanet] | 192 / 7739 | |||
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(HPO:0009906) | Aplasia/Hypoplasia of the earlobes | Frequent [Orphanet] | 41 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Very frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0008772) | Aplasia/Hypoplasia of the external ear | Very frequent [Orphanet] | 67 / 7739 | |||
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(HPO:0011039) | Abnormality of the helix | Frequent [Orphanet] | 33 / 7739 | |||
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(HPO:0009738) | Abnormality of the antihelix | Very frequent [Orphanet] | 37 / 7739 | |||
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(HPO:0004404) | Abnormality of the nipple | Frequent [Orphanet] | 54 / 7739 | |||
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(HPO:0100625) | Enlarged thorax | Frequent [Orphanet] | 15 / 7739 | |||
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(HPO:0004279) | Short palm | Frequent [Orphanet] | 323 / 7739 | |||
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(HPO:0004299) | Hernia of the abdominal wall | Frequent [Orphanet] | 176 / 7739 | |||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | Occasional [Orphanet] | 355 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0012815) | Hypoplastic female external genitalia | Frequent [Orphanet] | 36 / 7739 | |||
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(HPO:0001428) | Somatic mutation | Very frequent [Orphanet] | 100 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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