BabelNet

bn:03756868n

Noun Concept

Categories: Syndromes affecting the nervous system, Syndromes with mental retardation, Rare syndromes, X-linked recessive disorders

MASA syndrome Adducted Thumb With Mental Retardation Clasped Thumb and Mental Retardation CRASH syndrome Gareis-Mason syndrome

MASA syndrome is a rare X-linked recessive neurological disorder on the L1 disorder spectrum belonging in the group of hereditary spastic paraplegias a paraplegia known to increase stiffness spasticity in the lower limbs. Wikipedia

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Hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range Wikidata

IS A

hereditary spastic paraplegia

X-linked intellectual disability

GENETIC ASSOCIATION

L1 cell adhesion molecule

HEALTH SPECIALTY

neurology

Wikipedia

MASA syndrome

Wikidata

MASA syndrome

Wikidata Alias

Adducted Thumb With Mental Retardation, Clasped Thumb and Mental Retardation, CRASH syndrome, Gareis-Mason syndrome, hereditary spastic paraplegia 1, Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome, L1 syndrome, MASA SYNDROME, Mental Retardation, Aphasia, Shuffling Gait, and Adducted Thumbs, Spastic Paraplegia, X-linked, Spastic Paraplegia 1, X-Linked, SPG1, Thumb, Congenital Clasped, With Mental Retardation, X-linked complicated hereditary spastic paraplegia type 1, X-linked corpus callosum agenesis, X-linked spastic paraplegia 1