Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:alsoKnownAs |
gptkb:Fragile_X_syndrome
|
| gptkbp:causedBy |
mutation in FMR1 gene
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
gptkb:Julia_Bell
gptkb:J._P._Martin 1943 |
| https://www.w3.org/2000/01/rdf-schema#label |
Martin-Bell syndrome
|
| gptkbp:inheritance |
X-linked dominant
|
| gptkbp:locatedOnChromosome |
Xq27.3
|
| gptkbp:OMIM |
300624
|
| gptkbp:prevalence |
1 in 4000 males
1 in 8000 females |
| gptkbp:relatedTo |
gptkb:FMR1_gene
Fragile X-associated primary ovarian insufficiency Fragile X-associated tremor/ataxia syndrome |
| gptkbp:symptom |
large ears
anxiety intellectual disability hyperactivity autism spectrum features long face macroorchidism |
| gptkbp:treatment |
behavioral therapy
educational support supportive therapy |
| gptkbp:bfsParent |
gptkb:Joseph_Lockard_Martin_Jr.
gptkb:fragile_X_syndrome |
| gptkbp:bfsLayer |
8
|