Definition

A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, hypotonia, growth retardation, and liver dysfunction with onset in childhood and improvement of symptoms with age that has_material_basis_in homozygous and compound heterozygous mutation in the PHKG2 gene on chromosome 16p11.

Synonyms

glycogen storage disease type 9C
glycogen storage disease type IXc

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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glycogen storage disease IXc

glycogen storage disease IXc

Associated Genes

Associated Alleles

Associated Models