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. (4)

References

GARD:12632
MIM:614299
ORDO:401874

Ontology

Human Disease ( DOID:0080134 )

Relationships

is a type of: autosomal recessive disease multiple mitochondrial dysfunctions syndrome

autosomal recessive disease multiple mitochondrial dysfunctions syndrome Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models