loading...| Preferred Name |
FRAGILE X SYNDROME |
| Synonyms |
FXS |
| ID |
http://purl.bioontology.org/ontology/OMIM/300624 |
| altLabel |
FXS MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH marXq28 MARKER X SYNDROME FRAGILE X MENTAL RETARDATION SYNDROME MARTIN-BELL SYNDROME X-LINKED MENTAL RETARDATION AND MACROORCHIDISM |
| cui |
C0016667 |
| Gene Locus |
Xq27.3 |
| Gene Symbol |
FRAXA FMR1 POF1 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU002153 http://purl.bioontology.org/ontology/OMIM/MTHU007278 http://purl.bioontology.org/ontology/OMIM/MTHU022782 http://purl.bioontology.org/ontology/OMIM/MTHU007282 http://purl.bioontology.org/ontology/OMIM/MTHU007276 http://purl.bioontology.org/ontology/OMIM/MTHU007280 http://purl.bioontology.org/ontology/OMIM/MTHU038080 http://purl.bioontology.org/ontology/OMIM/MTHU068005 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU000260 http://purl.bioontology.org/ontology/OMIM/MTHU001452 http://purl.bioontology.org/ontology/OMIM/MTHU000191 http://purl.bioontology.org/ontology/OMIM/MTHU008495 http://purl.bioontology.org/ontology/OMIM/MTHU001468 http://purl.bioontology.org/ontology/OMIM/MTHU007279 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU000710 http://purl.bioontology.org/ontology/OMIM/MTHU007283 http://purl.bioontology.org/ontology/OMIM/MTHU007281 http://purl.bioontology.org/ontology/OMIM/MTHU001148 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| Moved from |
229150 |
| notation |
300624 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
FRAGILE X SYNDROME |
| Scope Statement |
50% of females have learning disability or mild mental retardation [MISCELLANEOUS] Prevalence approximately 1 in 4,000 males [MISCELLANEOUS] Incomplete penetrance [MISCELLANEOUS] Most cases (98%) caused by expanded trinucleotide repeat (CGG)n in the FMR1 gene (309550.0004) [MISCELLANEOUS] Some boys with premutations (55 to 200 repeats) may show milder features, including autistic features [MISCELLANEOUS] Caused by mutation in the fragile X messenger ribonucleoprotein gene (FMR1, 309550.0001) [MOLECULAR BASIS] Repeat is unstable if > 52 repeats [MISCELLANEOUS] Symptomatic if > 200 repeats [MISCELLANEOUS] |
| tui |
T047 |