Monosomy 9q22.3
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Microdeletion 9q22.3 |
| Number of Symptoms | 24 |
| OrphanetNr: | 77301 |
| 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: | 30 cases [Orphanet] |
| Inheritance: |
Unknown Not applicable [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Partial monosomy of the long arm of chromosome 9
-Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0000160) | Narrow mouth | Very frequent [Orphanet] | 188 / 7739 | |||
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(HPO:0000286) | Epicanthus | Very frequent [Orphanet] | 371 / 7739 | |||
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(HPO:0000243) | Trigonocephaly | Very frequent [Orphanet] | 40 / 7739 | |||
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(HPO:0000470) | Short neck | Very frequent [Orphanet] | 345 / 7739 | |||
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(HPO:0000256) | Macrocephaly | Very frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0000684) | Delayed eruption of teeth | Frequent [Orphanet] | 117 / 7739 | |||
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(HPO:0000494) | Downslanted palpebral fissures | Frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0000486) | Strabismus | Very frequent [Orphanet] | 576 / 7739 | |||
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(HPO:0009748) | Large earlobe | Frequent [Orphanet] | 27 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Very frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0011265) | Cleft earlobe | Frequent [Orphanet] | 12 / 7739 | |||
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(HPO:0001250) | Seizures | Frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0000752) | Hyperactivity | Very frequent [Orphanet] | 140 / 7739 | |||
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(HPO:0002015) | Dysphagia | Very frequent [Orphanet] | 301 / 7739 | |||
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(HPO:0001382) | Joint hypermobility | Frequent [Orphanet] | 231 / 7739 | |||
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(HPO:0005616) | Accelerated skeletal maturation | Frequent [Orphanet] | 46 / 7739 | |||
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(HPO:0002808) | Kyphosis | Frequent [Orphanet] | 289 / 7739 | |||
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(HPO:0000767) | Pectus excavatum | Very frequent [Orphanet] | 244 / 7739 | |||
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(HPO:0001537) | Umbilical hernia | Very frequent [Orphanet] | 206 / 7739 | |||
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(HPO:0000098) | Tall stature | Very frequent [Orphanet] | 74 / 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:0002119) | Ventriculomegaly | Frequent [Orphanet] | 253 / 7739 | |||
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(HPO:0007370) | Aplasia/Hypoplasia of the corpus callosum | Frequent [Orphanet] | 180 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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