Statements (49)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:associatedWith |
connective tissue disorders
|
| gptkbp:breedingSeason |
neurological issues
pulmonary complications cardiovascular anomalies dysmorphic features ocular abnormalities |
| gptkbp:causedBy |
mutation_in_the_TGFBR1_gene
|
| gptkbp:clinicalTrials |
hearing loss
skin changes scoliosis gastrointestinal issues hypertelorism dental anomalies clubfoot endocrine abnormalities high-arched palate joint hypermobility |
| gptkbp:demographics |
rare
|
| gptkbp:diseaseResistance |
variable
genetic testing clinical evaluation depends on severity early intervention improves outcomes |
| gptkbp:firstDescribedBy |
Victor_A._McKusick
|
| gptkbp:geneticDiversity |
recommended for families
chromosome 9 9q22.3 |
| https://www.w3.org/2000/01/rdf-schema#label |
McKusick syndrome
|
| gptkbp:impact |
symptomatic management
|
| gptkbp:nobleFamily |
autosomal dominant
|
| gptkbp:previouslyKnownAs |
gptkb:Mucopolysaccharidosis_type_II
|
| gptkbp:relatedPatent |
gptkb:Ehlers-Danlos_syndrome
Marfan syndrome Loeys-Dietz_syndrome |
| gptkbp:researchAreas |
biomarkers
patient quality of life long-term outcomes treatment options pathophysiology |
| gptkbp:researchFocus |
clinical trials
gene therapy genetic counseling |
| gptkbp:riskManagement |
family history
advanced paternal age |
| gptkbp:symptoms |
heart defects
short stature facial dysmorphism skeletal abnormalities |