Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

FRAGILE X TREMOR/ATAXIA SYNDROME
Synonyms

FXTAS
ID

http://purl.bioontology.org/ontology/OMIM/300623
altLabel

FXTAS
cui

C1839780
Gene Locus

Xq27.3
Gene Symbol

FMR1

FRAXA

POF1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU019319

http://purl.bioontology.org/ontology/OMIM/MTHU036555

http://purl.bioontology.org/ontology/OMIM/MTHU032732

http://purl.bioontology.org/ontology/OMIM/MTHU003268

http://purl.bioontology.org/ontology/OMIM/MTHU000246

http://purl.bioontology.org/ontology/OMIM/MTHU032740

http://purl.bioontology.org/ontology/OMIM/MTHU022348

http://purl.bioontology.org/ontology/OMIM/MTHU036543

http://purl.bioontology.org/ontology/OMIM/MTHU032735

http://purl.bioontology.org/ontology/OMIM/MTHU000773

http://purl.bioontology.org/ontology/OMIM/MTHU038079

http://purl.bioontology.org/ontology/OMIM/MTHU000136

http://purl.bioontology.org/ontology/OMIM/MTHU000328

http://purl.bioontology.org/ontology/OMIM/MTHU000765

http://purl.bioontology.org/ontology/OMIM/MTHU036353

http://purl.bioontology.org/ontology/OMIM/MTHU004473

http://purl.bioontology.org/ontology/OMIM/MTHU000283

http://purl.bioontology.org/ontology/OMIM/MTHU036680

http://purl.bioontology.org/ontology/OMIM/MTHU000284

http://purl.bioontology.org/ontology/OMIM/MTHU036392

http://purl.bioontology.org/ontology/OMIM/MTHU032741

http://purl.bioontology.org/ontology/OMIM/MTHU000282

http://purl.bioontology.org/ontology/OMIM/MTHU002521

http://purl.bioontology.org/ontology/OMIM/MTHU032731

http://purl.bioontology.org/ontology/OMIM/MTHU032733

http://purl.bioontology.org/ontology/OMIM/MTHU032737

http://purl.bioontology.org/ontology/OMIM/MTHU003683

http://purl.bioontology.org/ontology/OMIM/MTHU037778

http://purl.bioontology.org/ontology/OMIM/MTHU000764

http://purl.bioontology.org/ontology/OMIM/MTHU005259

http://purl.bioontology.org/ontology/OMIM/MTHU032734

http://purl.bioontology.org/ontology/OMIM/MTHU032739

http://purl.bioontology.org/ontology/OMIM/MTHU032745

http://purl.bioontology.org/ontology/OMIM/MTHU000700

http://purl.bioontology.org/ontology/OMIM/MTHU004024

http://purl.bioontology.org/ontology/OMIM/MTHU032738

http://purl.bioontology.org/ontology/OMIM/MTHU038078

http://purl.bioontology.org/ontology/OMIM/MTHU032742

http://purl.bioontology.org/ontology/OMIM/MTHU030647

http://purl.bioontology.org/ontology/OMIM/MTHU032746

http://purl.bioontology.org/ontology/OMIM/MTHU002670

http://purl.bioontology.org/ontology/OMIM/MTHU000235

http://purl.bioontology.org/ontology/OMIM/MTHU002748

http://purl.bioontology.org/ontology/OMIM/MTHU000940
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

300623
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

FRAGILE X TREMOR/ATAXIA SYNDROME
Scope Statement

Caused by 55-200 expanded trinucleotide repeats in the FMR1 gene (309550) referred to as a 'premutation' [MISCELLANEOUS]

Males are more commonly affected than females [MISCELLANEOUS]

Onset in fifties or sixties [MISCELLANEOUS]

Caused by trinucleotide repeat expansion (CGG)n in the fragile X messenger ribonucleoprotein gene (FMR1, 309550.0004) [MOLECULAR BASIS]

Most patients have a family history of fragile X syndrome [MISCELLANEOUS]

Full mutations with expanded trinucleotide repeats greater than 200 result in fragile X mental retardation syndrome (300624) [MISCELLANEOUS]
tui

T047
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