Disease

primary coenzyme Q10 deficiency 9

Definition

A coenzyme Q10 deficiency disease characterized by onset in the first decade of life of cerebellar ataxia associated with cerebellar atrophy that has_material_basis_in mutation homozygous or compound heterozygous in the COQ5 gene on chromosome 12q24.31.

Synonyms

COQ10D9

Cross References

MIM:619028

Parent Terms

autosomal recessive disease
coenzyme Q10 deficiency disease

Child Terms

None

Sources of Associations

RGD
MGI
ZFIN
FB
WB
SGD

Associated Genes

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Associated Alleles

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Associated Models

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