has material basis in germline mutation in FMR1 syndromic disease hereditary disease epilepsy fragile X syndrome https://github.com/monarch-initiative/mondo/issues/1766 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4883 https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/6428 https://www.malacards.org/card/fragile_x_syndrome marker 10 syndrome UMLS:C0016667 MONDO:0010383 MESH:D005600 fragile 10 premature ovarian failure fragile X syndrome Orphanet:908 fra(X) syndrome X-linked mental retardation and macroorchidism GARD:0006464 NANDO:2200840 NCIT:C84717 mental retardation, X-linked, associated with Marxq28 Martin-Bell syndrome NANDO:2100224 FraX syndrome A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities. NORD:1159 intellectual disability, X-linked, associated with Marxq28 OMIM:300624 fragile 10 intellectual disability syndrome marker X syndrome icd11.foundation:1524287677 ICD9:759.83 X-linked intellectual disability and macroorchidism fragile 10 mental retardation syndrome MEDGEN:8912 Fragile X syndrome, X-linked dominant FXS DOID:14261 FRAXA syndrome NANDO:1200692 fragile 10 syndrome MedDRA:10017324 SCTID:613003 primary ovarian insufficiency, fragile X-associated fragile X intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability obsolete neuro-ophthalmological disease obsolete syndromic genetic obesity obsolete motor stereotypies X-linked syndromic intellectual disability