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Syndromic X-linked intellectual disability Hedera type

MONDO:0010319

X-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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Broader categories

Disease (680) Epilepsy (438) Nervous system disorder (231) Hereditary disease (176) Neurodevelopmental disorder (147) Intellectual disability (133) Brain disorder (125) Central nervous system disorder (107) Syndromic disease (25) X-linked disease (16)
Trials to join now! 4 Not yet finished but already full! 2 Completed 1
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