TENORIO SYNDROME
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 29 |
OrphanetNr: | |
OMIM Id: |
616260
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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:0000463) | Anteverted nares | 305 / 7739 | ||||
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(HPO:0000158) | Macroglossia | 119 / 7739 | ||||
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(HPO:0000303) | Mandibular prognathia | 179 / 7739 | ||||
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(HPO:0000574) | Thick eyebrow | 96 / 7739 | ||||
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(HPO:0000270) | Delayed cranial suture closure | 33 / 7739 | ||||
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(HPO:0000445) | Wide nose | 190 / 7739 | ||||
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(HPO:0002003) | Large forehead | 9 / 7739 | ||||
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(HPO:0000506) | Telecanthus | 156 / 7739 | ||||
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(HPO:0000256) | Macrocephaly | 298 / 7739 | ||||
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(HPO:0001097) | Keratoconjunctivitis sicca | 25 / 7739 | ||||
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(HPO:0000750) | Delayed speech and language development | 197 / 7739 | ||||
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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
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(HPO:0002312) | Clumsiness | 28 / 7739 | ||||
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(HPO:0001288) | Gait disturbance | 318 / 7739 | ||||
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(HPO:0100021) | Cerebral palsy | 36 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0000739) | Anxiety | 67 / 7739 | ||||
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(HPO:0002650) | Scoliosis | 705 / 7739 | ||||
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(HPO:0000938) | Osteopenia | 138 / 7739 | ||||
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(HPO:0002020) | Gastroesophageal reflux | 101 / 7739 | ||||
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(HPO:0000998) | Hypertrichosis | 52 / 7739 | ||||
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(HPO:0001279) | Syncope | 94 / 7739 | ||||
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(HPO:0001943) | Hypoglycemia | 131 / 7739 | ||||
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(HPO:0002104) | Apnea | 106 / 7739 | ||||
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(HPO:0002090) | Pneumonia | 59 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
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(HPO:0002119) | Ventriculomegaly | 253 / 7739 | ||||
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(HPO:0000238) | Hydrocephalus | 278 / 7739 | ||||
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(HPO:0002120) | Cerebral cortical atrophy | 187 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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