Rolandic epilepsy - speech dyspraxia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 13
OrphanetNr: 163721
OMIM Id: 245570
300643
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Childhood-onset epilepsy syndrome
 -Rare genetic disease
 -Rare neurologic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001249) Intellectual disability rare [HPO:skoehler] 1089 / 7739
2
 (HPO:0010524) Agnosia 6 / 7739
3
 (HPO:0001263) Global developmental delay rare [HPO:skoehler] 853 / 7739
4
 (HPO:0001250) Seizures 1245 / 7739
5
 (HPO:0011098) Speech apraxia 9 / 7739
6
 (HPO:0002381) Aphasia 27 / 7739
7
 (HPO:0000750) Delayed speech and language development 197 / 7739
8
 (HPO:0002357) Dysphasia 33 / 7739
9
 (HPO:0007018) Attention deficit hyperactivity disorder 56 / 7739
10
 (HPO:0012557) EEG with centrotemporal focal spike waves 2 / 7739
11
 (HPO:0003829) Incomplete penetrance 85 / 7739
12
 (HPO:0003828) Variable expressivity 130 / 7739
13
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: