IllnessCosteff syndrome, differential diagnosis

NGS +

Optic atrophy and/or choreoathetoid movement disorder with onset before age of 10 years

• Alias: 3-methylglutaconic aciduria, type III (OPA3)
• Alias: Iraqi-Jewish 'Optic atrophy plus' (OPA3)
• Alias: Optic atrophy 3 with cataract (OPA3)
• Alias: Optic atrophy 3, AR (OPA3)
• Alias: Optic atrophy plus syndrome (OPA3)
• Alias: Optic atrophy, infantile, with chorea + spastic paraplegia (OPA3)
• 3-methylglutaconic aciduria with deafness, encephalopathy + Leigh-like syndrome SERAC1)
• 3-methylglutaconic aciduria, type I (AUH)
• 3-methylglutaconic aciduria, type IX (TIMM50)
• 3-methylglutaconic aciduria, type V (DNAJC19)
• 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement, neutropenia (CLPB)
• 3-methylglutaconic aciduria, type VIII (HTRA2)
• Allelic: Parkinson disease 13 (HTRA)
• Barth syndrome (TAFAZZZIN, TAZ)
• Cataract 38, AR (AGK)
• Mito. DNA depletion syndrome 5 [encephalomyopathic with/-out methylmalonic aciduria] (SUCLA2)
• Mito. DNA depletion syndrome 9 [encephalomyopathic type with methylmalonic aciduria] (SUCLG1)
• Mitochondrial DNA depletion syndrome 4A [Alpers type] + 4B [MNGIE type] (POLG)
• Mitochondrial complex V [ATP synthase] deficiency, nuclear type 2 (TMEM70)
• Mitochondrial recessive ataxia syndrome [includes SANDO + SCAE] (POLG)
• Progressive external ophthalmoplegia, AD 1 (POLG)
• Progressive external ophthalmoplegia, AR 1 (POLG)
• Sengers syndrome (AGK)