Disease #05094 (blindness)

Official abbreviation -
Name blindness
OMIM ID -
Inheritance -
Individuals reported having this disease 5
Phenotype entries for this disease 4
Associated with 0 genes -
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Disease features -
Remarks -


Individuals

5 entries on 1 page. Showing entries 1 - 5.
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00052512 - - 33 week old aborted fetus ? - ? (unknown) ? - 0 - - blindness blindness, congenital; loss in macula RPE65 RPE65 1 1 Muhammad Ajmal
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
00324436 Fam11 Lin et al., in preparation family F yes Saudi Arabia - - 0 - - ADHD, HL, blindness Hearing loss onset from an early neonatal age (probably congenital). Unilaterally cochlear implanted at age 3 years. - KARS 1 4 Barbara Vona
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