RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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; X-linked complicated hereditary spastic paraplegia type 1; X-linked corpus callosum agenesis; X-linked hydrocephalus syndrome; X-linked hydrocephalus with stenosis of the aqueduct of sylvius (Hsas); adducted thumb with mental retardation; clasped thumb and mental retardation; congenital clasped thumb with mental retardation; hereditary spastic paraplegia 1
DNA:missense mutations, deletion:cds, intron:p.H191Q, p.D598N, IVS27_3'utrdel (human) CTD Direct Evidence: marker/mechanism DNA:mutation:cds:924C>T(human) DNA:deletion:exon: OMIM:303350 ClinVar Annotator: match by term: L1 syndrome | ClinVar Annotator: match by term: MASA syndrome | ClinVar Annotator: match by term: X-linked hydrocephalus syndrome
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