ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED

General Information (adopted from Orphanet):

Synonyms, Signs: RESDX
Number of Symptoms 5
OrphanetNr:
OMIM Id: 300643
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0011098) Speech apraxia 9 / 7739
2
(HPO:0001256) Intellectual disability, mild 141 / 7739
3
(HPO:0007359) Focal seizures 27 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
5
(HPO:0007095) Frontoparietal polymicrogyria 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Roll et al. (2006) described a 3-generation French family with oral and speech dyspraxia, rolandic seizures, and mental retardation. The proband, a right-handed girl, lacked language at age 2.5 years when diurnal and nocturnal rolandic seizures started. Neurologic ...
Molecular genetics OMIM Roll et al. (2006) identified a mutation in the SRPX2 gene (N327S; 300642.0001) on Xq22 as being responsible for rolandic seizures associated with oral and speech dyspraxia and mental retardation in a 3-generation French family. SRPX2 is a ...