/syndromic X-linked intellectual disability Hedera type

syndromic X-linked intellectual disability Hedera type

Rare Disease

MONDO:0010319

Also Known As

MRXEMRXSHX-linked intellectual disability with epilepsyX-linked mental retardation with epilepsyintellectual developmental disorder, X-linked, syndromic, Hedera type, X-linked recessiveintellectual disability, X-linked, syndromic, Hedera typemental retardation, X-linked, syndromic, Hedera typeX-linked intellectual disability, Hedera typeintellectual disability, X-linked, with epilepsymental retardation, X-linked, with epilepsy

Definition

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.