Syndromic X-linked intellectual disability Hedera type
MONDO:0010319X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.
Also known as: MRXE, MRXSH, X-linked intellectual disability with epilepsy, intellectual developmental disorder, X-linked, syndromic, Hedera type, X-linked recessive, intellectual disability, X-linked, syndromic, Hedera type, mental retardation, X-linked, syndromic, Hedera type, X-linked intellectual disability, Hedera type, intellectual disability, X-linked, with epilepsy
7 clinical trials for this condition and its sub-types.
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Real-World study tracks Epidyolex's Long-Term impact on seizures
Disease control OngoingThis study follows 158 people in France who are prescribed Epidyolex (a cannabidiol-based medicine) for seizures as part of their normal care. Researchers will track how long people stay on the treatment, side effects, seizure frequency, and changes in daily functioning and quali…
Sponsor: Jazz Pharmaceuticals • Aim: Disease control
Last updated Jun 27, 2026 14:00 UTC
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New inhaler aims to stop prolonged seizures fast and safely
Symptom relief ENROLLING_BY_INVITATIONThis study tests the long-term safety of an inhaled medication called Staccato alprazolam for people aged 12 and older who have prolonged seizures. About 300 participants will use the inhaler when a seizure starts to see if it stops the seizure quickly and without serious side ef…
Phase: PHASE3 • Sponsor: UCB Biopharma SRL • Aim: Symptom relief
Last updated Aug 16, 2026 00:00 UTC