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Spinocerebellar ataxia type 14
1 OMIM reference -
1 associated gene
35 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal dominant nonsyndromic intellectual deficit
Childhood absence epilepsy
Juvenile myoclonic epilepsy
West syndrome
Neuroblastoma
Early infantile epileptic encephalopathy
Alexander disease type I
Alexander disease type II
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
17p13.3 microduplication syndrome
Autosomal dominant hypocalcemia
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Bartter syndrome with hypocalcemia
Craniometaphyseal dysplasia
Distal 17p13.3 microdeletion syndrome
Familial hypocalciuric hypercalcemia type 1
Familial isolated hypoparathyroidism due to impaired PTH secretion
Hypoplastic left heart syndrome
Miller-Dieker syndrome
Neonatal severe primary hyperparathyroidism
Oculodentodigital dysplasia
Syndactyly type 3
Congenital intrauterine infection-like syndrome
Coppock-like cataract
Leukocyte adhesion deficiency type I
Nuclear cataract
Posterior polar cataract
Presynaptic congenital myasthenic syndromes
Pulverulent cataract
Synonym(s):
- SCA14
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C537196
Gene symbol UniProt reference OMIM reference
PRKCG P05129176980
No signs/symptoms info available.