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Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
1 OMIM reference -
1 associated gene
99 connected diseases
No signs/symptoms info
Disease Type of connection
46,XY partial gonadal dysgenesis
Amyotrophic lateral sclerosis
Retinitis pigmentosa
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Translocation renal cell carcinoma
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Coffin-Siris syndrome
Frontotemporal dementia with motor neuron disease
Lethal acantholytic epidermolysis bullosa
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Left ventricular noncompaction
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Idiopathic hypereosinophilic syndrome
Charcot-Marie-Tooth disease type 1C
ADULT syndrome
Acute fatty liver of pregnancy
Acute promyelocytic leukemia
Angelman syndrome
Ankyloblepharon - ectodermal defects - cleft lip / palate
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal recessive spastic paraplegia type 20
Bladder exstrophy
Brody myopathy
Classic multiminicore myopathy
Congenital communicating hydrocephalus
Craniolenticulosutural dysplasia
Dedifferentiated liposarcoma
Dentatorubral pallidoluysian atrophy
Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type
Distal hereditary motor neuropathy type 2
Distal myopathy with vocal cord weakness
Dyskeratosis congenita
EEC syndrome
Ebstein malformation
Familial isolated dilated cardiomyopathy
Familial multiple meningioma
Familial rhabdoid tumor
HSD10 disease, atypical type
HSD10 disease, infantile type
HSD10 disease, neonatal type
Hemolytic anemia due to red cell pyruvate kinase deficiency
Hoyeraal-Hreidarsson syndrome
Hyaline body myopathy
Idiopathic pulmonary fibrosis
Juvenile amyotrophic lateral sclerosis
Keratosis palmoplantaris striata
Laing distal myopathy
Limb-mammary syndrome
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Mitochondrial trifunctional protein deficiency
Myxoid / round cell liposarcoma
Naxos disease
Osteogenesis imperfecta type 4
Partial chromosome Y deletion
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Richieri Costa-Pereira syndrome
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Spinocerebellar ataxia type 2
Spinocerebellar ataxia type 36
Split hand-split foot malformation
Syndromic multisystem autoimmune disease due to Itch deficiency
Well-differentiated liposarcoma
White sponge nevus
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Heart-hand syndrome, Slovenian type
Hutchinson-Gilford progeria syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Progeria-associated arthropathy
- Autosomal recessive spinocerebellar ataxia-12
- SCAR12

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: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
WWOX Q9NZC7605131
No signs/symptoms info available.