syndromic X-linked intellectual disability Hedera type
MeSH: C564516ORPHA: 93952
Overview
syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has material basis in mutation in the ATP6AP2 gene on chromosome Xp11
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with syndromic X-linked intellectual disability Hedera type, sourced from HPO and Orphanet clinical annotations.
Intellectual disabilityBilateral tonic-clonic seizureDelayed speech and language developmentMotor delayUnsteady gaitHyporeflexia of lower limbsExtrapyramidal muscular rigidityAtonic seizureHyporeflexia of upper limbsHypomimic faceCerebellar atrophyGait disturbanceDysmetriaSlurred speechObesityWeak voiceLeft ventricular hypertrophyPes planusCalcaneovalgus deformityHypoplasia of the corpus callosumApraxiaDroolingAction tremorFrequent fallsInability to walkScoliosisAbsent Achilles reflexBabinski signAstereognosisEcholaliaAgraphesthesia
Classification & Codes
MeSH Code
C564516Orphanet Code
ORPHA:93952syndromic X-linked intellectual disability Hedera type
| MeSH | C564516 |
| Orphanet | ORPHA:93952 |
| Treatments | 0 drug(s) |
| Symptoms on record | 31 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO