Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency

Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)

active

Code	`770898002`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20190131

Synonyms

Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX (WW domain containing oxidoreductase) deficiency
Autosomal recessive spinocerebellar ataxia type 12

Parents (11)

13028004Abnormal nervous system function finding
85995004Autosomal recessive hereditary disorder disorder
85102008Cerebellar ataxia disorder
363070008Developmental hereditary disorder disorder
84757009Epilepsy disorder
1362108000Genetic intellectual disability disorder
763597000Hereditary ataxia disorder
37650008Hereditary cerebellar degeneration disorder
363343008Hereditary disorder of the visual system disorder
60750009Third cranial nerve disease disorder
106153001Third cranial nerve finding finding

Children (0)

None (leaf concept).