X-linked intellectual deficit - epilepsy
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 2 |
OrphanetNr: | 2076 |
OMIM Id: |
300088
300423 300607 |
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 recessive X-linked dominant [Orphanet] |
Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Monogenic disease with epilepsy
-Rare genetic disease -Rare neurologic disease X-linked syndromic intellectual deficit -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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