has material basis in germline mutation in L1CAM MASA syndrome https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/masa_syndrome thumb congenital clasped with intellectual disability Gareis-Mason syndrome intellectual disability aphasia shuffling Gait adducted thumbs (MASA) GARD:0006986 MONDO:0010559 adducted thumb with mental retardation intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome NCIT:C129930 MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles. DOID:0060246 spastic paraplegia 1 Orphanet:2466 icd11.foundation:1973644723 MASA syndrome thumb, congenital Clasped, with mental retardation mental retardation, aphasia, shuffling Gait, and adducted thumbs mental retardation aphasia shuffling Gait adducted thumbs (MASA) spastic paraplegia, X-linked UMLS:C0795953 Clasped thumb and mental retardation MEDGEN:162894 SCTID:716996008 thumb congenital clasped with mental retardation masa syndrome, X-linked recessive OMIM:303350 complex hereditary spastic paraplegia L1 syndrome