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multiple mitochondrial dysfunctions syndrome 4
Summary
- 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.
- Super Class
- autosomal recessive disease multiple mitochondrial dysfunctions syndrome
External Links
- Disease Ontology
- DOID:0080136
- Mondo Disease Ontology
- ORDO
- OMIM
