Version: 8.0.0
Date: Tue Jan 28 2025
mitochondrial DNA depletion syndrome 12a
DOID:0080130
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

mitochondrial DNA depletion syndrome 12a

Definition
A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35.
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