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X-linked mental retardation with epilepsy (MRXE)
Genetics:
1) X-linked recessive syndrome
2) associated with defects in ATP6AP2 (renin receptor) gene
- silent mutation, exon skipping occurs
Clinical manifestations:
1) mild to moderate mental retardation
2) epilepsy
3) delays in motor milestones & speech acquisition in infancy
Related
renin receptor (renin/prorenin receptor, {ATPase, H+- transporting, lysosomal accessory protein 2}, vacuolar ATP synthase membrane sector-associated protein M8-9, V-ATPase M8.9 subunit, ATP6M8-9, N14F, ER-localized type 1 transmembrane adaptor, embryonic liver differentiation factor 10, ATP6AP2, ATP6IP2, CAPER, ELDF10, HT028, MSTP009, PSEC0072)
General
X-linked mental retardation syndromic
References
UniProt :accession O75787