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| Neuronopathy, distal hereditary motor, type VB, 614751 (3): Fundet i omimdefinitions
| Ribose 5-phosphate isomerase deficiency, 608611 (3): Fundet i omimdefinitions
| Amish infantile epilepsy syndrome, 609056 (3): Fundet i omimdefinitions
| Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3): Fundet i omimdefinitions
| Epilepsy, myoclonic, adult familial, 2 (2): Fundet i omimdefinitions
| Renal tubular acidosis with deafness, 267300 (3): Fundet i omimdefinitions
| Glaucoma 1B, primary open angle, adult onset, (2): Fundet i omimdefinitions
| {Autism susceptibility 5} (2): Fundet i omimdefinitions
| Pulmonary disease, chronic obstructive, severe early-onset (2): Fundet i omimdefinitions
| Achromatopsia-2, 216900 (3): Fundet i omimdefinitions

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