X-linked intellectual deficit - epilepsy

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 2
OrphanetNr: 2076
OMIM Id: 300088
300423
300607
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

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: Sort by abundance 

1
(HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
2
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: