OnlineIMD
Single-stranded DNA-binding protein 1 deficiency
Synonym(s)
Optic atrophy type 13 with retinal and foveal abnormalities
Type
Disease
External link(s)
IEMbase
Gene
SSBP1
/ SSBP1
7q34
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Single-stranded DNA-binding protein mitochondrial
Disease group(s)
9.2 Disorders of mtDNA replication and maintenance