X-linked intellectual disability, Hedera type

General Information (adopted from Orphanet):

Synonyms, Signs: MENTAL RETARDATION, X-LINKED, WITH EPILEPSY
MRXE
MRXSH
Number of Symptoms 7
OrphanetNr: 93952
OMIM Id: 300423
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: X-linked intellectual deficit - epilepsy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001270) Motor delay 322 / 7739
2
 (HPO:0010819) Atonic seizures 18 / 7739
3
 (HPO:0001249) Intellectual disability 1089 / 7739
4
 (HPO:0000750) Delayed speech and language development 197 / 7739
5
 (HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
6
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
7
 (HPO:0003593) Infantile onset 249 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hedera et al. (2002) reported a kindred in which 7 males were affected with mild to moderate mental retardation and epilepsy, transmitted as a monogenic X-linked recessive trait. Affected subjects demonstrated delays in motor milestones and speech acquisition ...
Molecular genetics OMIM In the family described by Hedera et al. (2002), Ramser et al. (2005) detected a silent mutation in the ATP6AP2 gene (300556.0001) residing in a putative exonic splicing enhancer site. Quantitative RT-PCR showed that the mutation resulted in ...