SSBP1:Ensemblv115

single stranded DNA binding protein 1
OMIM: 600439, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green SSBP1 in Optic Atrophy


Level 2: Ophthalmological disorders
Version 2.0

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Optic atrophy with or without extraocular phenotypes
  • Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510