Distal monosomy 17q
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Distal 17q deletion Monosomy 17qter Telomeric 17q deletion |
| Number of Symptoms | 33 |
| OrphanetNr: | 1597 |
| 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 [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Partial deletion of the long arm of chromosome 17
-Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0005487) | Prominent metopic ridge | Very frequent [Orphanet] | 28 / 7739 | |||
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(HPO:0000582) | Upslanted palpebral fissure | Very frequent [Orphanet] | 185 / 7739 | |||
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0010293) | Aplasia/Hypoplasia of the uvula | Very frequent [Orphanet] | 3 / 7739 | |||
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(HPO:0000288) | Abnormality of the philtrum | Very frequent [Orphanet] | 54 / 7739 | |||
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(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0000160) | Narrow mouth | Very frequent [Orphanet] | 188 / 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:0000954) | Single transverse palmar crease | Very frequent [Orphanet] | 162 / 7739 | |||
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(HPO:0200055) | Small hand | Very frequent [Orphanet] | 71 / 7739 | |||
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(HPO:0002983) | Micromelia | Very frequent [Orphanet] | 130 / 7739 | |||
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(HPO:0009466) | Radial deviation of finger | Very frequent [Orphanet] | 101 / 7739 | |||
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(HPO:0005257) | Thoracic hypoplasia | Very frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0001172) | Abnormality of the thumb | Very frequent [Orphanet] | 103 / 7739 | |||
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(HPO:0009601) | Aplasia/Hypoplasia of the thumb | Very frequent [Orphanet] | 80 / 7739 | |||
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(HPO:0001385) | Hip dysplasia | Very frequent [Orphanet] | 242 / 7739 | |||
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(HPO:0003312) | Abnormal form of the vertebral bodies | Very frequent [Orphanet] | 172 / 7739 | |||
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(HPO:0001163) | Abnormality of the metacarpal bones | Very frequent [Orphanet] | 149 / 7739 | |||
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(HPO:0001167) | Abnormality of finger | Very frequent [Orphanet] | 29 / 7739 | |||
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(HPO:0002817) | Abnormality of the upper limb | Very frequent [Orphanet] | 25 / 7739 | |||
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(HPO:0001622) | Premature birth | Very frequent [Orphanet] | 100 / 7739 | |||
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(HPO:0001197) | Abnormality of prenatal development or birth | Very frequent [Orphanet] | 9 / 7739 | |||
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(HPO:0002240) | Hepatomegaly | Very frequent [Orphanet] | 467 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0000995) | Melanocytic nevus | Very frequent [Orphanet] | 63 / 7739 | |||
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(HPO:0001643) | Patent ductus arteriosus | Very frequent [Orphanet] | 228 / 7739 | |||
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(HPO:0004760) | Congenital septal defect | Very frequent [Orphanet] | 69 / 7739 | |||
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(HPO:0001626) | Abnormality of the cardiovascular system | Very frequent [Orphanet] | 73 / 7739 | |||
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(HPO:0002093) | Respiratory insufficiency | Very frequent [Orphanet] | 410 / 7739 | |||
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(HPO:0011420) | Death | Very frequent [Orphanet] | 184 / 7739 | |||
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(HPO:0012795) | Abnormality of the optic disc | Very frequent [Orphanet] | 187 / 7739 | |||
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(HPO:0040064) | Abnormality of limbs | Very frequent [Orphanet] | 16 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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