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Term:MASA syndrome
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Accession:DOID:0060246 term browser browse the term
Definition:A 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. (DO)
Synonyms:exact_synonym: Crash syndrome;   Gareis-Mason syndrome;   L1 syndrome;   MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome;   Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs (MASA);   Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs;   SPASTIC PARAPLEGIA 1, X-LINKED;   Spastic paraplegia, type 1;   Spg1;   Thumb, congenital clasped, with mental retardation;   X-LINKED HYDROCEPHALUS SYNDROME;   X-linked complicated hereditary spastic paraplegia type 1;   X-linked corpus callosum agenesis;   X-linked hydrocephalus with stenosis of the aqueduct of sylvius (Hsas);   adducted thumb with mental retardation;   clasped thumb and mental retardation;   hereditary spastic paraplegia 1
 primary_id: MESH:C536029
 alt_id: OMIM:303350;   RDO:0001441
 xref: GARD:6986;   NCI:C129930;   ORDO:2466
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MASA syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G L1cam L1 cell adhesion molecule JBrowse link X 156,901,244 156,928,064 RGD:6483061

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Path 1
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  disease 16022
    syndrome 6143
      MASA syndrome 1
Path 2
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  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            disease of mental health 5775
              developmental disorder of mental health 2917
                specific developmental disorder 2099
                  intellectual disability 1940
                    MASA syndrome 1
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