FETAL AKINESIA SYNDROME, X-LINKED
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 10 |
OrphanetNr: | |
OMIM Id: |
300073
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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: |
X-linked 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:0000506) | Telecanthus | 156 / 7739 | ||||
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(HPO:0000581) | Blepharophimosis | 197 / 7739 | ||||
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(HPO:0002375) | Hypokinesia | 25 / 7739 | ||||
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(HPO:0001989) | Fetal akinesia sequence | 14 / 7739 | ||||
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(HPO:0001561) | Polyhydramnios | 191 / 7739 | ||||
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(HPO:0001417) | X-linked inheritance | 173 / 7739 | ||||
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(HPO:0003826) | Stillbirth | 40 / 7739 | ||||
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(HPO:0002139) | Arrhinencephaly | 13 / 7739 | ||||
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(HPO:0001360) | Holoprosencephaly | 29 / 7739 | ||||
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(HPO:0001274) | Agenesis of corpus callosum | 142 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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