X-linked epilepsy - learning disabilities - behavior disorders

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 13
OrphanetNr: 85294
OMIM Id: 300491
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
[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:0004482) Relative macrocephaly 44 / 7739
2
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] Rare [HPO:skoehler] 298 / 7739
3
 (HPO:0000718) Aggressive behavior 109 / 7739
4
 (HPO:0000708) Behavioral abnormality Very frequent [Orphanet] 212 / 7739
5
 (HPO:0001328) Specific learning disability 114 / 7739
6
 (HPO:0007359) Focal seizures 27 / 7739
7
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
8
 (HPO:0000729) Autistic behavior 27 / 7739
9
 (HPO:0001423) X-linked dominant inheritance 69 / 7739
10
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
11
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
12
 (OMIM) Partial epilepsy 1 / 7739
13
 (HPO:0001355) Megalencephaly 39 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Garcia et al. (2004) reported a novel X-linked recessive syndrome in a 4-generation kindred in which some males of normal intelligence had epilepsy and others had various combinations of epilepsy, learning difficulties, macrocephaly, and aggressive behavior. One patient ...
Molecular genetics OMIM By direct sequencing of the SYN1 gene, Garcia et al. (2004) identified a trp356-to-ter mutation (W356X; 313440.0001) in all 10 affected males and in obligate carrier females.

In 6 males from a large French Canadian family ...