TEMPLE SYNDROME
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 31 |
| OrphanetNr: | |
| OMIM Id: |
616222
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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:0000028) | Cryptorchidism | rare [HPO:skoehler] | 347 / 7739 | |||
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(HPO:0008734) | Decreased testicular size | rare [HPO:skoehler] | 105 / 7739 | |||
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0000445) | Wide nose | 190 / 7739 | ||||
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(HPO:0000218) | High palate | 356 / 7739 | ||||
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(HPO:0005280) | Depressed nasal bridge | rare [HPO:skoehler] | 381 / 7739 | |||
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(HPO:0000175) | Cleft palate | rare [HPO:skoehler] | 349 / 7739 | |||
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(HPO:0011220) | Prominent forehead | 137 / 7739 | ||||
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(HPO:0000193) | Bifid uvula | rare [HPO:skoehler] | 66 / 7739 | |||
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(HPO:0000322) | Short philtrum | 130 / 7739 | ||||
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(HPO:0002007) | Frontal bossing | 366 / 7739 | ||||
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(HPO:0004482) | Relative macrocephaly | 44 / 7739 | ||||
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(HPO:0000463) | Anteverted nares | rare [HPO:skoehler] | 305 / 7739 | |||
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(HPO:0000358) | Posteriorly rotated ears | rare [HPO:skoehler] | 163 / 7739 | |||
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(HPO:0000403) | Recurrent otitis media | 61 / 7739 | ||||
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(HPO:0000750) | Delayed speech and language development | 197 / 7739 | ||||
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(HPO:0004904) | Maturity-onset diabetes of the young | rare [HPO:skoehler] | 17 / 7739 | |||
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(HPO:0002650) | Scoliosis | 705 / 7739 | ||||
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(HPO:0001371) | Flexion contracture | 220 / 7739 | ||||
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(HPO:0001382) | Joint hypermobility | 231 / 7739 | ||||
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(HPO:0001773) | Short foot | 86 / 7739 | ||||
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(HPO:0200055) | Small hand | 71 / 7739 | ||||
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(HPO:0001622) | Premature birth | 100 / 7739 | ||||
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(HPO:0011968) | Feeding difficulties | 240 / 7739 | ||||
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(HPO:0001956) | Truncal obesity | 39 / 7739 | ||||
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(HPO:0001518) | Small for gestational age | 107 / 7739 | ||||
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(HPO:0002155) | Hypertriglyceridemia | rare [HPO:skoehler] | 67 / 7739 | |||
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(HPO:0003124) | Hypercholesterolemia | 53 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
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(HPO:0000238) | Hydrocephalus | 278 / 7739 | ||||
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(HPO:0030084) | Clinodactyly | 90 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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