
 Individual ID
|

 ID_report
|

 Reference
|
 Remarks
|

 Gender
|

 Consanguinity
|

 Country
|

 Population
|

 Age at death
|

 VIP
|

 Data_av
|

 Treatment
|

 Disease
|

 Phenotype details
|
 Genes screened
|
 Variants in genes
|

 Variants
|

 Panel size
|

 Owner
|
00225645 |
Sibling 1 |
PubMed: Kelman 2018 |
3-generation family, 1 carrier, 2 affected |
M |
no |
- |
- |
- |
0 |
- |
- |
neuropathy, optic, OPA, blindness |
Blindness (HP:0000618); Optic atrophy (HP:0000648); Horizontal nystagmus (HP:0000666); Asthma(HP:0002099); Optic disc pallor (HP:0000543); Abnormality of color vision (HP:0000551); Cystic spaces in the inner nuclear layer in OCT |
ACO2 |
ACO2 |
2 |
1 |
Thomas Foulonneau |
00225646 |
Sibling 2 |
PubMed: Kelman 2018 |
3-generation family, 1 carrier, 2 affected |
M |
no |
- |
- |
- |
0 |
- |
- |
neuropathy, optic, OPA, blindness |
Blindness (HP:0000618); Optic atrophy (HP:0000648); Horizontal nystagmus (HP:0000666); Asthma (HP:0002099); Optic disc pallor (HP:0000543); Abnormality of color vision (HP:0000551) |
ACO2 |
ACO2 |
2 |
1 |
Thomas Foulonneau |
00225647 |
Patients 1 and 2 |
PubMed: Metodiev 2014 |
2 affected |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic, blindness |
Blindness (HP:0000618); Optic disc pallor (HP:0000543); Optic atrophy (HP:0000648); Dyschromatopsia (HP:0007641); Paracentral scotoma (HP:0030528) |
ACO2 |
ACO2 |
2 |
2 |
Thomas Foulonneau |
00275687 |
- |
- |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
- |
- |
0 |
1 |
Marc Ferre |
00275688 |
- |
- |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
- |
0 |
1 |
Marc Ferre |
00275689 |
- |
- |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
- |
- |
0 |
1 |
Marc Ferre |
00275985 |
- |
Charif et al. (in progress) |
- |
F |
- |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00275991 |
- |
Charif et al. (in progress) |
- |
M |
- |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00275992 |
- |
Charif et al. (in progress) |
3 generation, 3 carriers, 2 affected |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
Amblyopia (HP:0000646); Esodeviation (HP:0020045); Nystagmus (HP:0000639) |
ACO2 |
ACO2 |
1 |
3 |
Khadidja Guehlouz |
00275993 |
- |
Charif et al. (in progress) |
- |
F |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
Amblyopia (HP:0000646) |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00275994 |
- |
Charif et al. (in progress) |
- |
F |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00275995 |
- |
Charif et al. (in progress) |
- |
M |
- |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00275996 |
- |
Charif et al. (in progress) |
2 generation, 2 carriers, 1 affected |
M |
no |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
Diabetes insipidus (HP:0000873); Optic atrophy (HP:0000648); Exercise intolerance (HP:0003546) |
ACO2 |
ACO2 |
1 |
2 |
Khadidja Guehlouz |
00276060 |
- |
Charif et al. (in progress) |
3 generation, 3 carriers, 2 affected |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
3 |
Khadidja Guehlouz |
00276061 |
- |
Charif et al. (in progress) |
- |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
Optic atrophy (HP:0000648) |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00276062 |
- |
Charif et al. (in progress) |
3 generations, 4 carriers, 2 affected |
M |
no |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
3 |
Khadidja Guehlouz |
00276063 |
- |
Charif et al. (in progress) |
2 generations, 2 carriers, 1 affected |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
Macular dystrophy (HP:0007754); Optic atrophy (HP:0000648) |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00276064 |
- |
Charif et al. (in progress) |
- |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
Optic atrophy (HP:0000648) |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00276065 |
- |
Charif et al. (in progress) |
- |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00276066 |
- |
Charif et al. (in progress) |
2 generations, 2 carriers, 2 affected |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
2 |
Khadidja Guehlouz |
00276072 |
- |
Charif et al. (in progress) |
2 generation, 2 carriers, 1 affected |
F |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
2 |
Khadidja Guehlouz |
00276121 |
- |
Charif et al. (in progress) |
2 generations, 2 carriers, 1 affected |
M |
? |
Pakistan |
- |
- |
0 |
- |
- |
neuropathy, optic |
Abnormal retinal morphology on macular OCT (HP:0030612) |
ACO2 |
ACO2 |
1 |
2 |
Khadidja Guehlouz |
00276122 |
- |
Charif et al. (in progress) |
- |
F |
- |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
Optic atrophy (HP:0000648) |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00276128 |
- |
Charif et al. (in progress) |
- |
F |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
High myopia (HP:0011003); Optic atrophy (HP:0000648) |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00276130 |
- |
Charif et al. (in progress) |
- |
M |
- |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
Optic atrophy (HP:0000648) |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00276131 |
- |
Charif et al. (in progress) |
2 generations, 1 carrier, 1 affected |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00276132 |
- |
Charif et al. (in progress) |
- |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00276133 |
- |
Charif et al. (in progress) |
- |
M |
- |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00276135 |
- |
Charif et al. (in progress) |
- |
F |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00276136 |
- |
Charif et al. (in progress) |
2 generation, 2 carriers, 2 affected (son affected) |
F |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
Optic atrophy (HP:0000648) |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00276351 |
- |
Charif et al. (in progress) |
- |
F |
? |
Italy |
- |
- |
0 |
- |
- |
neuropathy, optic |
Optic atrophy (HP:0000648) |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00276352 |
- |
Charif et al. (in progress) |
2 generations, 2 carriers, 2 affected |
F |
- |
Italy |
- |
- |
0 |
- |
- |
neuropathy, optic |
Congenital nystagmus (HP:0006934); Exotropia (HP:0000577); Migraine (HP:0002076); Scotoma (HP:0000575); Oculus dexter superonasal scotoma |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00276354 |
- |
Charif et al. (in progress) |
1 generation, 1 carrier, 1 affected
(4 siblings don't affected and don't carry the variant) |
F |
? |
Germany |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00276355 |
- |
Charif et al. (in progress) |
- |
M |
? |
Germany |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00276356 |
- |
Charif et al. (in progress) |
- |
M |
? |
Germany |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00281820 |
- |
Charif et al. (in progress) |
- |
M |
? |
Germany |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00281821 |
- |
Charif et al. (in progress) |
- |
M |
? |
Germany |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00281823 |
- |
Charif et al. (in progress) |
2 generations, 3 carriers, 2 affected (paternal) |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
3 |
Khadidja Guehlouz |
00286161 |
- |
Charif et al. (in progress) |
- |
F |
? |
Germany |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00286162 |
- |
Charif et al. (in progress) |
- |
F |
? |
Germany |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00286175 |
- |
Charif et al. (in progress) |
- |
F |
? |
Germany |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00286177 |
- |
Charif et al. (in progress) |
3 generations, 3 carriers, 3 affected |
M |
? |
Spain |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00286182 |
- |
Charif et al. (in progress) |
2 generations, 2 carriers, 2 affected |
M |
? |
Italy |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00286183 |
- |
Charif et al. (in progress) |
2 generations, 2 carriers, 1 affected |
M |
? |
Italy |
- |
- |
0 |
- |
- |
neuropathy, optic |
Ptosis (HP:0000508) |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00286184 |
- |
Charif et al. (in progress) |
- |
F |
? |
Italy |
- |
- |
0 |
- |
- |
neuropathy, optic |
Glaucoma (HP:0000501) |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00286185 |
- |
Charif et al. (in progress) |
- |
M |
- |
Germany |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00286188 |
- |
Charif et al. (in progress) |
- |
M |
? |
Germany |
- |
- |
0 |
- |
- |
neuropathy, optic |
Abnormal macular morphology (HP:0001103) |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00286190 |
- |
Charif et al. (in progress) |
- |
F |
- |
Germany |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
2 |
1 |
Khadidja Guehlouz |
00286191 |
- |
Charif et al. (in progress) |
- |
M |
? |
England |
- |
- |
0 |
- |
- |
neuropathy, optic |
Optic atrophy (HP:0000648) |
ACO2 |
ACO2 |
2 |
1 |
Khadidja Guehlouz |
00286196 |
- |
Charif et al. (in progress) |
2 generations, 4 carriers, 1 affected |
F |
? |
Italy |
- |
- |
0 |
- |
- |
neuropathy, optic |
Cystoid macular degeneration (HP:0008028) |
ACO2 |
ACO2 |
2 |
1 |
Khadidja Guehlouz |
00287171 |
- |
Charif et al. (in progress) |
- |
M |
- |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
Abnormal macular morphology (HP:0001103); Mycrocyst |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00287172 |
- |
Charif et al. (in progress) |
2 generations, 2 carriers, 2 affected |
M |
- |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00287363 |
- |
Charif et al. (in progress) |
- |
M |
- |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00287364 |
- |
Charif et al. (in progress) |
- |
M |
- |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
Mitral valve prolapse (HP:0001634); Abnormal macular morphology (HP:0001103); Renal cortical microcysts (HP:0004734) |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00287366 |
- |
Charif et al. (in progress) |
2 generations, 2 carriers (daughter), 1 affected |
F |
- |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
Increased blood pressure (HP:0032263); Hyperglycemia (HP:0003074); Abdominal obesity (HP:0012743); Abnormal circulating cholesterol concentration (HP:0003107); Metabolic syndrome |
ACO2 |
ACO2 |
1 |
2 |
Khadidja Guehlouz |
00287971 |
- |
Charif et al. (in progress) |
- |
F |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00287972 |
- |
Charif et al. (in progress) |
3 generations, 4 carriers, 2 affected |
M |
no |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
Optic atrophy (HP:0000648) |
ACO2 |
ACO2 |
1 |
4 |
Khadidja Guehlouz |
00287973 |
- |
Charif et al. (in progress) |
- |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00287974 |
- |
Charif et al. (in progress) |
- |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
Macular dystrophy (HP:0007754) |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00287975 |
- |
Charif et al. (in progress) |
2 generations,2 carriers, 2 affected |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00287976 |
- |
Charif et al. (in progress) |
- |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00287979 |
- |
Charif et al. (in progress) |
2 generations, 3 carriers (Both non affected parents are heterozygous for each variant),1 affected |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
Optic atrophy (HP:0000648); Seizures (HP:0001250); Memory impairment (HP:0002354) |
ACO2 |
ACO2 |
2 |
1 |
Khadidja Guehlouz |
00287980 |
- |
Charif et al. (in progress) |
1 generation, 3 carriers, 1 affected |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
Optic atrophy (HP:0000648) |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00287981 |
- |
Charif et al. (in progress) |
2 generations, 3 carriers (both non affected parents are heterozygous for each variant), 1 affected |
F |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
2 |
1 |
Khadidja Guehlouz |
00287982 |
- |
Charif et al. (in progress) |
4 generations,1 carrier, 1 affected |
M |
no |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
Nystagmus (HP:0000639); Ataxia (HP:0001251); Abnormal cerebellum morphology (HP:0001317); Peripheral neuropathy (HP:0009830); Dysarthria (HP:0001260) |
ACO2 |
ACO2 |
2 |
1 |
Khadidja Guehlouz |
00288886 |
- |
Charif et al. (in progress) |
- |
F |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00288887 |
- |
Charif et al. (in progress) |
Both non affected parents are HTZ for each variant |
F |
? |
France |
- |
00y-02y |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
2 |
1 |
Khadidja Guehlouz |
00288888 |
- |
Charif et al. (in progress) |
- |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
2 |
1 |
Khadidja Guehlouz |
00288889 |
- |
Charif et al. (in progress) |
2 generations, 5 carriers, 4 affected |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
2 |
5 |
Khadidja Guehlouz |
00288890 |
- |
Charif et al. (in progress) |
2 generations, 2 carriers, 1 affected |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
2 |
2 |
Khadidja Guehlouz |
00288891 |
- |
Charif et al. (in progress) |
Non affected mother are heterozygous for one variant |
F |
? |
Italy |
- |
- |
0 |
- |
- |
neuropathy, optic |
Anorexia (HP:0002039); Migraine (HP:0002076) |
ACO2 |
ACO2 |
2 |
1 |
Khadidja Guehlouz |
00288892 |
- |
Charif et al. (in progress) |
2 generations, 3 carriers, 2 affected |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
Optic atrophy (HP:0000648) |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00288893 |
- |
Charif et al. (in progress) |
- |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00288894 |
- |
Charif et al. (in progress) |
1 generation, 2 carriers, 2 affected |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
Optic atrophy (HP:0000648) |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00288895 |
- |
Charif et al. (in progress) |
- |
F |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
Amblyopia (HP:0000646); Peripheral neuropathy (HP:0009830); Hypertension (HP:0000822) |
ACO2 |
ACO2 |
2 |
1 |
Khadidja Guehlouz |
00288896 |
- |
Charif et al. (in progress) |
- |
F |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
Peripheral neuropathy (HP:0009830); Ataxia (HP:0001251); Spastic paraparesis (HP:0002313) |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00288897 |
- |
Charif et al. (in progress) |
- |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00288898 |
- |
Charif et al. (in progress) |
father with optic disc pallor but NO DNA |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
Amblyopia (HP:0000646) |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00288899 |
- |
Charif et al. (in progress) |
mother and daughter affected but no DNA |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
Retrobulbar optic neuritis (HP:0100654); Scoliosis (HP:0002650) |
ACO2 |
ACO2 |
2 |
1 |
Khadidja Guehlouz |
00289017 |
- |
Charif et al. (in progress) |
3 generations, 3 carriers, 2 affected |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00289018 |
- |
Charif et al. (in progress) |
3 generations, 3 carriers, 2 affected ( son and grandson) |
F |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00289019 |
- |
Charif et al. (in progress) |
- |
F |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
Hypertension (HP:0000822); Renal insufficiency (HP:0000083) |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00289020 |
- |
Charif et al. (in progress) |
2 generations, 3 carriers, 2 affected |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00289021 |
- |
Charif et al. (in progress) |
2 generations, 3 carriers, 2 affected |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00289022 |
- |
Charif et al. (in progress) |
3 generations, 4 carriers,2 affected |
F |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00289023 |
- |
Charif et al. (in progress) |
3 generations, 4 carriers, 2 affected |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00289024 |
- |
Charif et al. (in progress) |
2 generations, 5 carriers, 4 affected |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
2 |
1 |
Khadidja Guehlouz |
00289025 |
- |
Charif et al. (in progress) |
2 generations, 5 carriers, 4 affected |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
2 |
1 |
Khadidja Guehlouz |
00289027 |
- |
Charif et al. (in progress) |
2 generations, 5 carriers, 4 affected |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00289028 |
- |
Charif et al. (in progress) |
2 generations, 5 carriers, 4 affected |
F |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00289029 |
- |
Charif et al. (in progress) |
2 generations, 2 carriers, 2 affected |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
Optic atrophy (HP:0000648) |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00289030 |
- |
Charif et al. (in progress) |
2 generations, 2carriers,1 affected (son) |
F |
? |
Pakistan |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00289031 |
- |
Charif et al. (in progress) |
2 generations, 2 carriers,1 affected |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00289032 |
- |
Charif et al. (in progress) |
2 generations, 2 carriers, 1 affected (son) |
F |
- |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00289033 |
- |
Charif et al. (in progress) |
2 generations, 2 carriers, 1 affected (mother) |
F |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00289034 |
- |
Charif et al. (in progress) |
3 generations, 4 carriers, 2 affected |
F |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00289035 |
- |
Charif et al. (in progress) |
3 generations, 4 carriers, 2 affected |
F |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00289036 |
- |
Charif et al. (in progress) |
3 generations, 4 carriers, 2 affected |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
Attention deficit (HP:0007018); Cognitive impairment (HP:0100543); Strabismus (HP:0000486) |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |
00289037 |
- |
Charif et al. (in progress) |
2 generations, 2 carriers, 1 affected |
M |
- |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
2 |
2 |
Khadidja Guehlouz |
00289038 |
- |
Charif et al. (in progress) |
2 generations, 2 carriers, 1affected (son) |
M |
? |
France |
- |
- |
0 |
- |
- |
neuropathy, optic |
- |
ACO2 |
ACO2 |
1 |
1 |
Khadidja Guehlouz |