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syndromic X-linked intellectual disability Hedera type

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description 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.
Uniprot Description A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXE patients manifest mild to moderate mental retardation associated with epilepsy, delays in motor milestones and speech acquisition in infancy.
Mondo Term and Equivalent IDs
MONDO:0010319:  syndromic X-linked intellectual disability Hedera type
MESH:C564516: 
Orphanet:93952: 
UMLS:C1845543: