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Metadata
ID	DOID:0080336
Name	mitochondrial DNA depletion syndrome 14
Definition	A mitochondrial DNA depletion syndrome that is characterized by severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy, with hypotonia and peripheral hypertonia with opisthotonic posturing, as well as feeding difficulties and profound neurodevelopmental delay, and has_material_basis_in homozygous mutation in the OPA1 mitochondrial dynamin like GTPase gene on chromosome 3q29. https://www.ncbi.nlm.nih.gov/pubmed/26561570, https://www.ncbi.nlm.nih.gov/pubmed/28215579, https://www.ncbi.nlm.nih.gov/pubmed/28494813
Xrefs	MIM:616896
Parent Relationships	is_a mitochondrial DNA depletion syndrome
Subclass Logical Relationships	has phenotype some Neurodevelopmental delay