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Metadata
ID	DOID:0080136
Name	multiple mitochondrial dysfunctions syndrome 4
Definition	A multiple mitochondrial dysfunctions syndrome that is characterized by normal development for the first months of life, followed by progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus, resulting in death in early childhood, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the iron-sulfur cluster assembly 2 gene on chromosome 14q24. https://www.ncbi.nlm.nih.gov/pubmed/25539947, https://www.ncbi.nlm.nih.gov/pubmed/29122497, https://www.ncbi.nlm.nih.gov/pubmed/29297947, https://www.ncbi.nlm.nih.gov/pubmed/29359243
Xrefs	MIM:616370 ORDO:457406
Subsets	DO_rare_slim
Parent Relationships	is_a multiple mitochondrial dysfunctions syndrome is_a autosomal recessive disease