DESBUQUOIS DYSPLASIA 2
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 29 |
| OrphanetNr: | |
| OMIM Id: |
615777
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| ICD-10: |
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| 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: | No data available. |
Symptom Information:
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(HPO:0000343) | Long philtrum | 262 / 7739 | ||||
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(HPO:0000311) | Round face | 104 / 7739 | ||||
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(HPO:0000175) | Cleft palate | rare [HPO:skoehler] | 349 / 7739 | |||
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(HPO:0012368) | Flat face | 106 / 7739 | ||||
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(HPO:0000520) | Proptosis | 192 / 7739 | ||||
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(HPO:0005280) | Depressed nasal bridge | 381 / 7739 | ||||
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(HPO:0004482) | Relative macrocephaly | 44 / 7739 | ||||
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(HPO:0000592) | Blue sclerae | rare [HPO:skoehler] | 85 / 7739 | |||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001388) | Joint laxity | 117 / 7739 | ||||
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(HPO:0000954) | Single transverse palmar crease | rare [HPO:skoehler] | 162 / 7739 | |||
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(HPO:0000894) | Short clavicles | 30 / 7739 | ||||
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(HPO:0002673) | Coxa valga | rare [HPO:skoehler] | 57 / 7739 | |||
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(HPO:0001863) | Toe clinodactyly | rare [HPO:skoehler] | 12 / 7739 | |||
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(HPO:0001769) | Broad foot | rare [HPO:skoehler] | 31 / 7739 | |||
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(HPO:0009803) | Short phalanx of finger | 79 / 7739 | ||||
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(HPO:0011304) | Broad thumb | rare [HPO:skoehler] | 39 / 7739 | |||
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(HPO:0001763) | Pes planus | rare [HPO:skoehler] | 176 / 7739 | |||
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(HPO:0003026) | Short long bone | 51 / 7739 | ||||
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(HPO:0000774) | Narrow chest | rare [HPO:skoehler] | 167 / 7739 | |||
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(HPO:0004233) | Advanced ossification of carpal bones | 14 / 7739 | ||||
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(HPO:0000767) | Pectus excavatum | rare [HPO:skoehler] | 244 / 7739 | |||
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(HPO:0002656) | Epiphyseal dysplasia | 25 / 7739 | ||||
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(HPO:0010049) | Short metacarpal | 99 / 7739 | ||||
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(HPO:0003016) | Metaphyseal widening | 41 / 7739 | ||||
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(HPO:0000768) | Pectus carinatum | rare [HPO:skoehler] | 136 / 7739 | |||
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(HPO:0004322) | Short stature | 1232 / 7739 | ||||
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(HPO:0001956) | Truncal obesity | rare [HPO:skoehler] | 39 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | rare [HPO:skoehler] | 990 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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