Human genes for glycogen storage disease IXb
Glycogen storage disease IXb [DOID:0111041]
A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that has_material_basis_in compound heterozygous mutation in the PHKB gene on chromosome 16q12.
Synonyms: glycogen storage disease IXb, DOID:0111041, glycogen storage disease IXbs, glycogenosis due to liver and muscle phosphorylase kinase deficiency, glycogenosis type 9B ...