Human genes for glycogen storage disease IXc
Glycogen storage disease IXc [DOID:0111043]
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 IXc, DOID:0111043, glycogen storage disease IXcs, glycogenosis type 9C, glycogenosis type IXc ...