multiple mitochondrial dysfunctions syndrome 2

Term ID

DOID:0080134

Synonyms

• BOLA3 deficiency
• multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia

Definition

A multiple mitochondrial dysfunctions syndrome that is characterized by increased serum glycine and lactate, developmental regression in infancy, an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the bolA family member 3 gene on chromosome 2p13. (5)

References

• GARD:12632
• OMIM:614299
• ORDO:401874

Ontology

Human Disease   ( DOID:0080134 )