syndromic X-linked intellectual disability Hedera type
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.
MONDO:0016160
X-linked intellectual disability-epilepsy syndrome
is_a
MONDO:0100146
ATP6AP2-related disorder
is_a
MRXE
exact
MRXSH
exact
X-linked intellectual disability with epilepsy
exact
intellectual developmental disorder, X-linked, syndromic, Hedera type, X-linked recessive
exact
intellectual disability, X-linked, syndromic, Hedera type
exact
mental retardation, X-linked, syndromic, Hedera type
exact
mental retardation, X-linked, with epilepsy
related