FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term multiple mitochondrial dysfunctions syndrome 4 ID (Ontology) DOID:0080136 (Human Disease)
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.
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 multiple mitochondrial dysfunctions syndrome 4       1
 for disease ribbon | multiple mitochondrial dysfunctions syndrome 4       1
 model of | multiple mitochondrial dysfunctions syndrome 4       1
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autosomal genetic disease
 |__autosomal recessive disease___________________
mitochondrial metabolism disease                  |
 |__multiple mitochondrial dysfunctions syndrome__|
                                                  multiple mitochondrial dysfunctions syndrome 4  1 rec.
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Is a autosomal recessive disease
multiple mitochondrial dysfunctions syndrome
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MIM:616370
ORDO:457406