FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 35 |
| OrphanetNr: | |
| OMIM Id: |
227255
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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: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000126) | Hydronephrosis | 119 / 7739 | ||||
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(HPO:0000143) | Rectovaginal fistula | 18 / 7739 | ||||
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(HPO:0000316) | Hypertelorism | 644 / 7739 | ||||
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(HPO:0000160) | Narrow mouth | 188 / 7739 | ||||
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(HPO:0000465) | Webbed neck | 81 / 7739 | ||||
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(HPO:0000494) | Downslanted palpebral fissures | 328 / 7739 | ||||
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(HPO:0002162) | Low posterior hairline | 88 / 7739 | ||||
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(HPO:0002714) | Downturned corners of mouth | 98 / 7739 | ||||
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(HPO:0001999) | Abnormal facial shape | 169 / 7739 | ||||
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(HPO:0000637) | Long palpebral fissure | 21 / 7739 | ||||
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(HPO:0000414) | Bulbous nose | 63 / 7739 | ||||
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(HPO:0003196) | Short nose | 264 / 7739 | ||||
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(HPO:0000431) | Wide nasal bridge | 290 / 7739 | ||||
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(HPO:0000358) | Posteriorly rotated ears | 163 / 7739 | ||||
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(HPO:0002937) | Hemivertebrae | 41 / 7739 | ||||
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(HPO:0001194) | Abnormalities of placenta or umbilical cord | 3 / 7739 | ||||
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(HPO:0002023) | Anal atresia | 135 / 7739 | ||||
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(HPO:0001511) | Intrauterine growth retardation | 358 / 7739 | ||||
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(HPO:0001636) | Tetralogy of Fallot | 104 / 7739 | ||||
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(HPO:0001629) | Ventricular septal defect | 316 / 7739 | ||||
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(HPO:0001669) | Transposition of the great arteries | 36 / 7739 | ||||
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(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
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(HPO:0008947) | Infantile muscular hypotonia | 482 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
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(HPO:0010547) | Muscle flaccidity | 466 / 7739 | ||||
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(HPO:0000238) | Hydrocephalus | 278 / 7739 | ||||
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(HPO:0001274) | Agenesis of corpus callosum | 142 / 7739 | ||||
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(OMIM) | Klippel-Feil anomaly | 3 / 7739 | ||||
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(Orphanet:13140) | Long/large ear | 4 / 7739 | ||||
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(HPO:0400004) | Long ear | 94 / 7739 | ||||
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(OMIM) | Short, webbed neck | 3 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Intrathoracic stomach | 1 / 7739 | ||||
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(OMIM) | Four vessel umbilical cord | 1 / 7739 | ||||
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(OMIM) | Short esophagus | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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