Worster-Drought syndrome
General Information (adopted from Orphanet):
Synonyms, Signs: |
WORSTER-DROUGHT SYNDROME Congenital suprabulbar paresis |
Number of Symptoms | 17 |
OrphanetNr: | 3465 |
OMIM Id: |
185480
|
ICD-10: |
G80.8 |
UMLs: |
C0796204 |
MeSH: |
C536747 |
MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | 3.7 of 100 000 [Orphanet] |
Inheritance: |
Autosomal dominant Not applicable [Orphanet] |
Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Rare neurologic disease
-Rare neurologic disease |
Symptom Information:
|
(HPO:0002307) | Drooling | 43 / 7739 | ||||
|
(HPO:0000252) | Microcephaly | Occasional [Orphanet] | 832 / 7739 | |||
|
(HPO:0000407) | Sensorineural hearing impairment | Occasional [Orphanet] | 524 / 7739 | |||
|
(HPO:0001250) | Seizures | Occasional [Orphanet] | 1245 / 7739 | |||
|
(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
|
(HPO:0001260) | Dysarthria | 329 / 7739 | ||||
|
(HPO:0001347) | Hyperreflexia | Frequent [Orphanet] | 363 / 7739 | |||
|
(HPO:0002167) | Neurological speech impairment | Very frequent [Orphanet] | 308 / 7739 | |||
|
(HPO:0004374) | Hemiplegia/hemiparesis | Occasional [Orphanet] | 158 / 7739 | |||
|
(HPO:0002353) | EEG abnormality | 188 / 7739 | ||||
|
(HPO:0001291) | Abnormality of the cranial nerves | Very frequent [Orphanet] | 27 / 7739 | |||
|
(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
|
(OMIM) | Tongue and soft palate weakness | 1 / 7739 | ||||
|
(OMIM) | Congenital suprabulbar paresis | 1 / 7739 | ||||
|
(OMIM) | Orbicularis oris muscle weakness | 1 / 7739 | ||||
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
(HPO:0012758) | Neurodevelopmental delay | Frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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