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- MASA_syndrome abstract "MASA syndrome, also called CRASH syndrome and Gareis-Mason syndrome, is a rare X-linked recessive neurological disorder. The acronym "MASA" describes the four major symptoms - Mental retardation, Aphasia, Shuffling gait, and Adducted thumbs. A more suitable name for this syndrome is "L1 syndrome". The disorder has been associated with mutations in the L1CAM gene. This syndrome has severe symptoms in males, while females are carriers because only one X-chromosome is affected. Affected males can't reproduce so their X-Chromosome isn't inherited. (The term "CRASH", for "corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus" has also been used to describe L1CAM-related disorders.) A prenatal diagnostic is possible and very reliable when mother is carrier of the syndrome. First, it's necessary to determine the fetus' sex and, then, study X-chromosomes. In both cases, the probability to transfer the X-chromosome affected to the descendants is 50%. Males descendants will express the symptoms of the syndrome but females will be carriers.".
- MASA_syndrome omim "303350".
- MASA_syndrome wikiPageExternalLink NBK1484.
- MASA_syndrome wikiPageID "869927".
- MASA_syndrome wikiPageRevisionID "592451086".
- MASA_syndrome genereviewsname "L1 Syndrome".
- MASA_syndrome genereviewsnbk "NBK1484".
- MASA_syndrome hasPhotoCollection MASA_syndrome.
- MASA_syndrome name "MASA syndrome".
- MASA_syndrome omim "303350".
- MASA_syndrome subject Category:Rare_diseases.
- MASA_syndrome subject Category:Syndromes.
- MASA_syndrome subject Category:X-linked_recessive_disorders.
- MASA_syndrome type Abstraction100002137.
- MASA_syndrome type Attribute100024264.
- MASA_syndrome type Cognition100023271.
- MASA_syndrome type Complex105870365.
- MASA_syndrome type Concept105835747.
- MASA_syndrome type Condition113920835.
- MASA_syndrome type Content105809192.
- MASA_syndrome type Disease114070360.
- MASA_syndrome type Disorder114052403.
- MASA_syndrome type Idea105833840.
- MASA_syndrome type IllHealth114052046.
- MASA_syndrome type Illness114061805.
- MASA_syndrome type PathologicalState114051917.
- MASA_syndrome type PhysicalCondition114034177.
- MASA_syndrome type PsychologicalFeature100023100.
- MASA_syndrome type State100024720.
- MASA_syndrome type Syndrome105870790.
- MASA_syndrome type Syndromes.
- MASA_syndrome type Whole105869584.
- MASA_syndrome type X-linkedRecessiveDisorders.
- MASA_syndrome type Disease.
- MASA_syndrome type AilmentCondition.
- MASA_syndrome type Situation.
- MASA_syndrome comment "MASA syndrome, also called CRASH syndrome and Gareis-Mason syndrome, is a rare X-linked recessive neurological disorder. The acronym "MASA" describes the four major symptoms - Mental retardation, Aphasia, Shuffling gait, and Adducted thumbs. A more suitable name for this syndrome is "L1 syndrome". The disorder has been associated with mutations in the L1CAM gene. This syndrome has severe symptoms in males, while females are carriers because only one X-chromosome is affected.".
- MASA_syndrome label "MASA syndrome".
- MASA_syndrome sameAs m.03k5bd.
- MASA_syndrome sameAs Q6714500.
- MASA_syndrome sameAs Q6714500.
- MASA_syndrome sameAs 720.
- MASA_syndrome sameAs 722.
- MASA_syndrome sameAs 725.
- MASA_syndrome sameAs MASA_syndrome.
- MASA_syndrome wasDerivedFrom MASA_syndrome?oldid=592451086.
- MASA_syndrome isPrimaryTopicOf MASA_syndrome.
- MASA_syndrome name "MASA syndrome".