CATEL-MANZKE SYNDROME
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 29 |
OrphanetNr: | |
OMIM Id: |
616145
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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 | 347 / 7739 | ||||
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(HPO:0000470) | Short neck | 345 / 7739 | ||||
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(HPO:0000204) | Cleft upper lip | 193 / 7739 | ||||
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(HPO:0000476) | Cystic hygroma | 22 / 7739 | ||||
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(HPO:0000162) | Glossoptosis | 26 / 7739 | ||||
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0000218) | High palate | 356 / 7739 | ||||
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(HPO:0000175) | Cleft palate | 349 / 7739 | ||||
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(HPO:0000377) | Abnormality of the pinna | 111 / 7739 | ||||
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(HPO:0000369) | Low-set ears | 372 / 7739 | ||||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
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(HPO:0004209) | Clinodactyly of the 5th finger | 288 / 7739 | ||||
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(HPO:0001762) | Talipes equinovarus | 309 / 7739 | ||||
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(HPO:0012385) | Camptodactyly | 113 / 7739 | ||||
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(HPO:0000767) | Pectus excavatum | 244 / 7739 | ||||
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(HPO:0009464) | Ulnar deviation of the 2nd finger | 6 / 7739 | ||||
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(HPO:0001388) | Joint laxity | 117 / 7739 | ||||
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(HPO:0000954) | Single transverse palmar crease | 162 / 7739 | ||||
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(HPO:0000768) | Pectus carinatum | 136 / 7739 | ||||
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(HPO:0001373) | Joint dislocation | 59 / 7739 | ||||
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(HPO:0000023) | Inguinal hernia | 181 / 7739 | ||||
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(HPO:0001537) | Umbilical hernia | 206 / 7739 | ||||
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(HPO:0001511) | Intrauterine growth retardation | 358 / 7739 | ||||
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(HPO:0008897) | Postnatal growth retardation | 113 / 7739 | ||||
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(HPO:0002623) | Overriding aorta | 8 / 7739 | ||||
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(HPO:0001651) | Dextrocardia | 38 / 7739 | ||||
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(HPO:0001629) | Ventricular septal defect | 316 / 7739 | ||||
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(HPO:0001680) | Coarctation of aorta | 57 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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