FRONTOOCULAR SYNDROME
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 31 |
OrphanetNr: | |
OMIM Id: |
605321
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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 dominant 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:0000581) | Blepharophimosis | 197 / 7739 | ||||
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(HPO:0011324) | Multiple suture craniosynostosis | 22 / 7739 | ||||
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(HPO:0000582) | Upslanted palpebral fissure | 185 / 7739 | ||||
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(HPO:0000160) | Narrow mouth | 188 / 7739 | ||||
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(HPO:0000601) | Hypotelorism | 83 / 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:0004440) | Coronal craniosynostosis | 38 / 7739 | ||||
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(HPO:0000243) | Trigonocephaly | 40 / 7739 | ||||
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(HPO:0009891) | Underdeveloped supraorbital ridges | 36 / 7739 | ||||
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(HPO:0001363) | Craniosynostosis | 132 / 7739 | ||||
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(HPO:0000426) | Prominent nasal bridge | 121 / 7739 | ||||
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(HPO:0000520) | Proptosis | 192 / 7739 | ||||
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(HPO:0000286) | Epicanthus | 371 / 7739 | ||||
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(HPO:0000508) | Ptosis | 459 / 7739 | ||||
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(HPO:0000545) | Myopia | 286 / 7739 | ||||
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(HPO:0000486) | Strabismus | 576 / 7739 | ||||
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(HPO:0000369) | Low-set ears | 372 / 7739 | ||||
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(HPO:0000358) | Posteriorly rotated ears | 163 / 7739 | ||||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0001256) | Intellectual disability, mild | 141 / 7739 | ||||
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(HPO:0003186) | Inverted nipples | 15 / 7739 | ||||
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(HPO:0000767) | Pectus excavatum | 244 / 7739 | ||||
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(HPO:0001052) | Nevus flammeus | 88 / 7739 | ||||
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(HPO:0001076) | Glabellar hemangioma | 4 / 7739 | ||||
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(HPO:0005306) | Capillary hemangiomas | 8 / 7739 | ||||
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(HPO:0001642) | Pulmonic stenosis | 89 / 7739 | ||||
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(HPO:0001631) | Atria septal defect | 274 / 7739 | ||||
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(OMIM) | Thin philtrum | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0012745) | Short palpebral fissure | 47 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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