Allan-Herndon-Dudley syndrome
GPTKB entity
Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:affects |
males predominantly
|
| gptkbp:alsoKnownAs |
AHDS
|
| gptkbp:category |
genetic disorder
neurological disorder metabolic disorder |
| gptkbp:diagnosedBy |
genetic testing
thyroid function tests |
| gptkbp:firstDescribed |
gptkb:William_Allan
1944 C. Nash Herndon Florence C. Dudley |
| https://www.w3.org/2000/01/rdf-schema#label |
Allan-Herndon-Dudley syndrome
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:mutationAssociatedWith |
SLC16A2 gene
|
| gptkbp:OMIM |
300523
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
hypotonia
intellectual disability muscle weakness spasticity movement disorders dysarthria delayed motor development abnormal thyroid hormone levels |
| gptkbp:treatment |
supportive care
physical therapy speech therapy experimental thyroid hormone analogs |
| gptkbp:bfsParent |
gptkb:X-linked_intellectual_disability
|
| gptkbp:bfsLayer |
7
|