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 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;   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 14875
    syndrome 4220
      MASA syndrome 1
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              developmental disorder of mental health 2595
                specific developmental disorder 1330
                  intellectual disability 1158
                    MASA syndrome 1
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