multiple mitochondrial dysfunctions syndrome 4

Term ID

DOID:0080136

Synonyms

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. (5)

References

• OMIM:616370
• ORDO:457406

Ontology

Human Disease   ( DOID:0080136 )