All individuals with variants in gene ACO2

123 entries on 2 pages. Showing entries 1 - 100.
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VIP     

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00073156 - ATX372 - F - France - - 0 - - SCAR - 1 1 Claire Guissart
00176985 69986 - - F no Switzerland - - 0 - - EE , Muscular hypotonia of the trunk (HP:0008936); Spastic paraparesis (HP:0002313); Horizontal pendular nystagmus (HP:0007811); Esotropia (HP:0000565); Abnormality of ocular smooth pursuit (HP:0000617) 2 1 Anaïs Begemann
00225621 IV-1 PubMed: Bouwkamp 2018 4-generation family, 3 carriers, 2 affected M yes Israel Arab-Bedouin descent - 0 - - SPG Abnormality of eye movement (HP:0000496); Cerebellar atrophy (HP:0001272); Lower limb spasticity (HP:0002061); Ataxia (HP:0001251); Babinski sign (HP:0003487); Intellectual disability severe (HP:0010864); Lower limb muscle weakness (HP:0007340); Spastic paraplegia (HP:0001258); Hyperreflexia (HP:0001347); Dysarthria (HP:0001260); Seizures (HP:0001250); Microcephaly (HP:0000252); Failure to thrive (HP:0001508); Aplasia/Hypoplasia of the cerebellum (HP:0007360); Inguinal hernia (HP:0000023); Recurrent otitis media (HP:0000403) 1 1 Thomas Foulonneau
00225632 IV-3 PubMed: Bouwkamp2018 4-generation family, 4 carriers, 2 affected F yes Israel Arab bedouin descent - 0 - - SPG Microcephaly (HP:0000252); Cerebellar atrophy (HP:0001272); Lower limb spasticity (HP:0002061); Ataxia (HP:0001251); Babinski sign (HP:0003487); Intellectual disability, mild (HP:0001256); Spastic paraplegia (HP:0001258); Lower limb muscle weakness (HP:0007340); Hyperreflexia (HP:0001347); Impaired vibration sensation in the lower limbs (HP:0002166); Behavioral abnormality (HP:0000708); Developmental regression (HP:0002376); Horizontal nystagmus (HP:0000666); Encephalopathy(HP:0001298); Syndactyly (HP:0001159); Hyperlordosis (HP:0003307); Equinovarus deformity (HP:0008110); Limited pronation/supination of forearm (HP:0006394); Abnormality of the cerebral white matter (HP:0002500); Acute mental change 1 1 Thomas Foulonneau
00225634 - PubMed: Sadat 2016 1 affected M no - Mixed Afro-Caribbean and East indian ancestry - 0 - - encephalomyopathy, mitochondrial Ataxia (HP:0001251); Seizures (HP:0001250); Cerebellar atrophy (HP:0001272); Aplasia/Hypoplasia of the cerebellum (HP:0007360); Profound global developmental delay (HP:0012736); Sensorineural hearing impairment (HP:0000407); Abnormal saccadic eye movements (HP:0000570); Abnormal facial shape/dysmorphic facial features (HP:0001999); Muscular hypotonia (HP:0001252); Myoclonus (HP:0001336) 2 1 Thomas Foulonneau
00225635 - PubMed: Srivastava 2017 1 affected M ? - European - 0 - - RDEOA Ataxia (HP:0001251); Seizures (HP:0001250); Dysarthria (HP:0001260); Peripheral neuropathy (HP:0009830); Motor delay (HP:0001270); Short stature (HP:0004322); Bifid uvula (HP:0000193); Submucous cleft palate (HP:0011819); Optic atrophy (HP:0000648); Pigmentary retinopathy(HP:0000580); Blindness (HP:0000618); Delayed speech and language development (HP:0000750); Esotropia (HP:0000565); Nystagmus (HP:0000639); Muscular hypotonia of the trunk (HP:0008936); Appendicular hypertonia 2 1 Thomas Foulonneau
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 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) 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) 2 2 Thomas Foulonneau
00225648 Patient 3 PubMed: Metodiev 2014 2 affected M yes Algeria - 00y02m? 0 - - ENC Central apnoea (HP:0000961); Cyanosis (HP:0002871); Cerebral atrophy (HP:0002059); Bradycardia (HP:0001662); Metabolic acidosis (HP:0001942); Hyperglycemia (HP:0003074); Coma (HP:0001259); Bilateral oedema of optic disks 1 1 Thomas Foulonneau
00225649 Patient 4 PubMed: Metodiev 2014 2 affected M yes Algeria - 00y02m? 0 - - encephalopathy, neonatal, severe Central apnoea (HP:0000961); Cerebral atrophy (HP:0002059); Bradycardia (HP:0001662); Abnormality of eye movement (HP:0000496); Optic disc pallor (HP:0000543); Muscular hypotonia of the trunk (HP:0008936); Vertigo/dizziness (HP:0002321) 1 1 Thomas Foulonneau
00225650 Patient 5 PubMed: Metodiev 2014 2-generation family, 1affected F no - - - 0 - - encephalopathy, neonatal, severe Abnormality of eye movement (HP:0000496); Cerebellar atrophy (HP:0001272); Bilateral Optic disc pallor (HP:0000543); Muscular hypotonia of the trunk (HP:0008936); Global developmental delay (HP:0001263); Nystagmus (HP:0000639); Poor eye contact (HP:0000817); Abnormal saccadic eye movements (HP:0000570) 1 1 Thomas Foulonneau
00226238 F3-P1 PubMed: Abela 2017 2 affected F ? Israel Arab - 0 - - EE Ataxia (HP:0001251); Muscular hypotonia (HP:0001252); Optic atrophy (HP:0000648); Strabismus (HP:0000486); Intellectual disability (HP:0001249); Cerebellar atrophy (HP:0001272); Sensorineural hearing impairment (HP:0000407); Failure to thrive (HP:0001508); Aplasia/Hypoplasia of the cerebellum (HP:0007360); Hypoplasia of the corpus callosum (HP:0002079); Abnormality of the cerebral white matter (HP:0002500) 1 1 Thomas Foulonneau
00226239 F3-P2 PubMed: Abela2017 2 affected F ? Israel Arab - 0 - - EE Ataxia (HP:0001251); Muscular hypotonia (HP:0001252); Optic atrophy (HP:0000648); Strabismus (HP:0000486); Intellectual disability (HP:0001249); Cerebellar atrophy (HP:0001272); Failure to thrive (HP:0001508); Seizures (HP:0001250) 1 1 Thomas Foulonneau
00226240 F4-P1 PubMed: Abela 2017 1 affected F ? - Caucasian - 0 - - EE Ataxia (HP:0001251); Muscular hypotonia (HP:0001252); Optic atrophy (HP:0000648); Strabismus (HP:0000486); Intellectual disability (HP:0001249); Failure to thrive (HP:0001508); Seizures (HP:0001250); Aplasia/Hypoplasia of the cerebellum (HP:0007360); Hypoplasia of the corpus callosum (HP:0002079); Cerebellar atrophy (HP:0001272) 2 1 Thomas Foulonneau
00226241 Family A IV-3 PubMed: Spiegel 2012 5-generation family, 8 affected, 3 death M yes Israel Arab muslim origin - 0 - - ICRD Athetosis (HP:0002305); Areflexia (HP:0001284); Strabismus (HP:0000486); Optic atrophy (HP:0000648); Failure to thrive (HP:0001508); Seizures (HP:0001250); Ataxia (HP:0001251); Profound global developmental delay (HP:0012736); Vegetative state (HP:0031358) 1 1 Thomas Foulonneau
00226242 Family A IV-5 PubMed: Spiegel 2012 5-generation family, 8 affected, 3 death F yes Israel Arab muslim origin - 0 - - ICRD Abnormality of the cerebral white matter (HP:0002500); Athetosis (HP:0002305); Intellectual disability (HP:0001249); Ataxia (HP:0001251); Seizures (HP:0001250); Optic atrophy (HP:0000648); Strabismus (HP:0000486); Retinal dystrophy severe (HP:0000556); Cerebellar atrophy (HP:0001272); Hyperreflexia (HP:0001347); Scoliosis (HP:0002650); Profound global developmental delay (HP:0012736) 1 1 Thomas Foulonneau
00226243 Family A V-2 PubMed: Spiegel 2012 5-generation family, 8 affected, 3 death F yes Israel Arab muslim origin - 0 - - ICRD Athetosis (HP:0002305); Muscular hypotonia of the trunk (HP:0008936); Failure to thrive (HP:0001508); Seizures (HP:0001250); Cerebellar atrophy (HP:0001272); Profound global developmental delay (HP:0012736); Areflexia (HP:0001284); Nystagmus(HP:0000639); Optic atrophy (HP:0000648); Hypoplasia of the corpus callosum (HP:0002079); Abnormality of the cerebral white matter (HP:0002500); Aplasia/Hypoplasia of the cerebellum (HP:0007360); Sensorineural hearing loss (HP:0000407) 1 1 Thomas Foulonneau
00226259 Family A V-5 PubMed: Spiegel 2012 5-generation family, 8 affected, 3 death F yes Israel Arab muslim origin - 0 - - ICRD Athetosis (HP:0002305); Muscular hypotonia of the trunk (HP:0008936); Failure to thrive (HP:0001508); Seizures (HP:0001250); Cerebellar atrophy (HP:0001272); Profound global developmental delay (HP:0012736); Sensorineural hearing impairment (HP:0000407); Areflexia (HP:0001284); Hyporeflexia/Reduced tendon reflexes( HP:0001315); Strabismus (HP:0000486); Nystagmus (HP:0000639); Retinal dystrophy (HP:0000556); Ataxia (HP:0001251); Muscular hypotonia (HP:0001252); Optic atrophy (HP:0000648); Strabismus (HP:0000486); Intellectual disability (HP:0001249); Sensorineural hearing impairment (HP:0000407); Aplasia/Hypoplasia of the cerebellum(HP:0007360); Hypoplasia of the corpus callosum (HP:0002079); Abnormality of the cerebral white matter (HP:0002500) 1 1 Thomas Foulonneau
00226260 Family A V-7 PubMed: Spiegel 2012 5-generation family, 8 affected, 3 death M yes Israel Arab muslim origin - 0 - - ICRD Strabismus (HP:0000486); Intellectual disability (HP:0001249); Ataxia (HP:0001251) 1 1 Thomas Foulonneau
00226261 Family B III-1 PubMed: Spiegel 2012 3-generation family, 3 affected F yes Israel Arab muslim origin - 0 - - ICRD Athetosis (HP:0002305); Muscular hypotonia of the trunk (HP:0008936); Failure to thrive (HP:0001508); Seizures (HP:0001250); Cerebellar atrophy (HP:0001272); Ataxia (HP:0001251); Profound global developmental delay (HP:0012736); Areflexia (HP:0001284); No eye contact (HP:0000817); Nystagmus (HP:0000639); Retinal dystrophy (HP:0000556); Optic atrophy (HP:0000648); ); Hypoplasia of the corpus callosum (HP:0002079) 1 1 Thomas Foulonneau
00226262 Family B III-2 PubMed: Spiegel 2012 3-generation family, 3 affected F yes Israel Arab muslim origin - 0 - - ICRD Athetosis (HP:0002305); Muscular hypotonia of the trunk (HP:0008936); Failure to thrive (HP:0001508); Seizures (HP:0001250); Cerebellar atrophy (HP:0001272); Abnormality of the cerebral white matter (HP:0002500); Hyporeflexia/Reduced tendon reflexes (HP:0001315); Profound global developmental delay ( HP:0012736); Retinal dystrophy (HP:0000556); Nystagmus (HP:0000639); Ataxia (HP:0001251); Muscular hypotonia(HP:0001252); Optic atrophy (HP:0000648); No eye contact (HP:0000817) 1 1 Thomas Foulonneau
00226263 Family B III-3 PubMed: Spiegel 2012 3-generation family, 3 affected F yes Israel Arab muslim origin - 0 - - ICRD Athetosis (HP:0002305); Muscular hypotonia of the trunk (HP:0008936); Failure to thrive (HP:0001508); Cerebellar atrophy (HP:0001272); Profound global developmental delay ( HP:0012736); Areflexia (HP:0001284); Strabismus (HP:0000486); Nystagmus (HP:0000639); Retinal dystrophy (HP:0000556); Optic atrophy(HP:0000648); Aplasia/Hypoplasia of the cerebellum (HP:0007360); Ataxia (HP:0001251); Muscular hypotonia (HP:0001252) 1 1 Thomas Foulonneau
00239184 Fukada2019 patient PubMed: Fukada 2019 2 carriers, 1 affected F no Japan japanese 05y 0 - - neurodegeneration Seizures (HP:0001250); Ataxia (HP:0001251); Hypotonia (HP:0001290); Hyporeflexia of lower limbs (HP:0002600); Hyporeflexia of upper limbs (HP:0012391); Cerebral atrophy (HP :0002059); Cerebellar atrophy (HP:0001272); Abnormality of the cerebral white matter (HP:0002500); Hearing impairment (HP:0000365); Motor delay (HP:0001270); Nystagmus (HP:0000639) 2 1 Thomas Foulonneau
00275985 - Charif et al. (in progress) - F - France - - 0 - - neuropathy, optic - 1 1 Khadidja Guehlouz
00275991 - Charif et al. (in progress) - M - France - - 0 - - neuropathy, optic - 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) 1 3 Khadidja Guehlouz
00275993 - Charif et al. (in progress) - F ? France - - 0 - - neuropathy, optic Amblyopia (HP:0000646) 1 1 Khadidja Guehlouz
00275994 - Charif et al. (in progress) - F ? France - - 0 - - neuropathy, optic - 1 1 Khadidja Guehlouz
00275995 - Charif et al. (in progress) - M - France - - 0 - - neuropathy, optic - 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) 1 2 Khadidja Guehlouz
00276060 - Charif et al. (in progress) 3 generation, 3 carriers, 2 affected M ? France - - 0 - - neuropathy, optic - 1 3 Khadidja Guehlouz
00276061 - Charif et al. (in progress) - M ? France - - 0 - - neuropathy, optic Optic atrophy (HP:0000648) 1 1 Khadidja Guehlouz
00276062 - Charif et al. (in progress) 3 generations, 4 carriers, 2 affected M no France - - 0 - - neuropathy, optic - 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) 1 1 Khadidja Guehlouz
00276064 - Charif et al. (in progress) - M ? France - - 0 - - neuropathy, optic Optic atrophy (HP:0000648) 1 1 Khadidja Guehlouz
00276065 - Charif et al. (in progress) - M ? France - - 0 - - neuropathy, optic - 1 1 Khadidja Guehlouz
00276066 - Charif et al. (in progress) 2 generations, 2 carriers, 2 affected M ? France - - 0 - - neuropathy, optic - 1 2 Khadidja Guehlouz
00276072 - Charif et al. (in progress) 2 generation, 2 carriers, 1 affected F ? France - - 0 - - neuropathy, optic - 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) 1 2 Khadidja Guehlouz
00276122 - Charif et al. (in progress) - F - France - - 0 - - neuropathy, optic Optic atrophy (HP:0000648) 1 1 Khadidja Guehlouz
00276128 - Charif et al. (in progress) - F ? France - - 0 - - neuropathy, optic High myopia (HP:0011003); Optic atrophy (HP:0000648) 1 1 Khadidja Guehlouz
00276130 - Charif et al. (in progress) - M - France - - 0 - - neuropathy, optic Optic atrophy (HP:0000648) 1 1 Khadidja Guehlouz
00276131 - Charif et al. (in progress) 2 generations, 1 carrier, 1 affected M ? France - - 0 - - neuropathy, optic - 1 1 Khadidja Guehlouz
00276132 - Charif et al. (in progress) - M ? France - - 0 - - neuropathy, optic - 1 1 Khadidja Guehlouz
00276133 - Charif et al. (in progress) - M - France - - 0 - - neuropathy, optic - 1 1 Khadidja Guehlouz
00276135 - Charif et al. (in progress) - F ? France - - 0 - - neuropathy, optic - 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) 1 1 Khadidja Guehlouz
00276351 - Charif et al. (in progress) - F ? Italy - - 0 - - neuropathy, optic Optic atrophy (HP:0000648) 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 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 - 1 1 Khadidja Guehlouz
00276355 - Charif et al. (in progress) - M ? Germany - - 0 - - neuropathy, optic - 1 1 Khadidja Guehlouz
00276356 - Charif et al. (in progress) - M ? Germany - - 0 - - neuropathy, optic - 1 1 Khadidja Guehlouz
00281820 - Charif et al. (in progress) - M ? Germany - - 0 - - neuropathy, optic - 1 1 Khadidja Guehlouz
00281821 - Charif et al. (in progress) - M ? Germany - - 0 - - neuropathy, optic - 1 1 Khadidja Guehlouz
00281823 - Charif et al. (in progress) 2 generations, 3 carriers, 2 affected (paternal) M ? France - - 0 - - neuropathy, optic - 1 3 Khadidja Guehlouz
00286161 - Charif et al. (in progress) - F ? Germany - - 0 - - neuropathy, optic - 1 1 Khadidja Guehlouz
00286162 - Charif et al. (in progress) - F ? Germany - - 0 - - neuropathy, optic - 1 1 Khadidja Guehlouz
00286175 - Charif et al. (in progress) - F ? Germany - - 0 - - neuropathy, optic - 1 1 Khadidja Guehlouz
00286177 - Charif et al. (in progress) 3 generations, 3 carriers, 3 affected M ? Spain - - 0 - - neuropathy, optic - 1 1 Khadidja Guehlouz
00286182 - Charif et al. (in progress) 2 generations, 2 carriers, 2 affected M ? Italy - - 0 - - neuropathy, optic - 1 1 Khadidja Guehlouz
00286183 - Charif et al. (in progress) 2 generations, 2 carriers, 1 affected M ? Italy - - 0 - - neuropathy, optic Ptosis (HP:0000508) 1 1 Khadidja Guehlouz
00286184 - Charif et al. (in progress) - F ? Italy - - 0 - - neuropathy, optic Glaucoma (HP:0000501) 1 1 Khadidja Guehlouz
00286185 - Charif et al. (in progress) - M - Germany - - 0 - - neuropathy, optic - 1 1 Khadidja Guehlouz
00286188 - Charif et al. (in progress) - M ? Germany - - 0 - - neuropathy, optic Abnormal macular morphology (HP:0001103) 1 1 Khadidja Guehlouz
00286190 - Charif et al. (in progress) - F - Germany - - 0 - - neuropathy, optic - 2 1 Khadidja Guehlouz
00286191 - Charif et al. (in progress) - M ? England - - 0 - - neuropathy, optic Optic atrophy (HP:0000648) 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) 2 1 Khadidja Guehlouz
00287171 - Charif et al. (in progress) - M - France - - 0 - - neuropathy, optic Abnormal macular morphology (HP:0001103); Mycrocyst 1 1 Khadidja Guehlouz
00287172 - Charif et al. (in progress) 2 generations, 2 carriers, 2 affected M - France - - 0 - - neuropathy, optic - 1 1 Khadidja Guehlouz
00287363 - Charif et al. (in progress) - M - France - - 0 - - neuropathy, optic - 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) 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 1 2 Khadidja Guehlouz
00287971 - Charif et al. (in progress) - F ? France - - 0 - - neuropathy, optic - 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) 1 4 Khadidja Guehlouz
00287973 - Charif et al. (in progress) - M ? France - - 0 - - neuropathy, optic - 1 1 Khadidja Guehlouz
00287974 - Charif et al. (in progress) - M ? France - - 0 - - neuropathy, optic Macular dystrophy (HP:0007754) 1 1 Khadidja Guehlouz
00287975 - Charif et al. (in progress) 2 generations,2 carriers, 2 affected M ? France - - 0 - - neuropathy, optic - 1 1 Khadidja Guehlouz
00287976 - Charif et al. (in progress) - M ? France - - 0 - - neuropathy, optic - 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) 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) 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 - 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) 2 1 Khadidja Guehlouz
00288886 - Charif et al. (in progress) - F ? France - - 0 - - neuropathy, optic - 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 - 2 1 Khadidja Guehlouz
00288888 - Charif et al. (in progress) - M ? France - - 0 - - neuropathy, optic - 2 1 Khadidja Guehlouz
00288889 - Charif et al. (in progress) 2 generations, 5 carriers, 4 affected M ? France - - 0 - - neuropathy, optic - 2 5 Khadidja Guehlouz
00288890 - Charif et al. (in progress) 2 generations, 2 carriers, 1 affected M ? France - - 0 - - neuropathy, optic - 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) 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) 1 1 Khadidja Guehlouz
00288893 - Charif et al. (in progress) - M ? France - - 0 - - neuropathy, optic - 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) 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) 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) 1 1 Khadidja Guehlouz
00288897 - Charif et al. (in progress) - M ? France - - 0 - - neuropathy, optic - 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) 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) 2 1 Khadidja Guehlouz
00289017 - Charif et al. (in progress) 3 generations, 3 carriers, 2 affected M ? France - - 0 - - neuropathy, optic - 1 1 Khadidja Guehlouz
00289018 - Charif et al. (in progress) 3 generations, 3 carriers, 2 affected ( son and grandson) F ? France - - 0 - - neuropathy, optic - 1 1 Khadidja Guehlouz
00289019 - Charif et al. (in progress) - F ? France - - 0 - - neuropathy, optic Hypertension (HP:0000822); Renal insufficiency (HP:0000083) 1 1 Khadidja Guehlouz
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