Phenotypes for disease #05094 (blindness)

5 entries on 1 page. Showing entries 1 - 5.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000170748 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 - Variants in the ACO2 gene Familial, autosomal recessive - 05y 02y - - Thomas Foulonneau 00225645
0000170749 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) - Optic neuropthy associated with novel variant in the ACO2 gene Familial, autosomal recessive - 09y 08y - - Thomas Foulonneau 00225646
0000170750 Blindness (HP:0000618); Optic disc pallor (HP:0000543); Optic atrophy (HP:0000648); Dyschromatopsia (HP:0007641); Paracentral scotoma (HP:0030528) - Optic atrophy Familial, autosomal recessive - 20y? 05y? - - Thomas Foulonneau 00225647
0000319219 uncomplicated pregnancy; born at term, normal weight, not following moving light stimuli; 31y-no light sensation, enophthalmos, severe ocular shrinkage, horizontal distribution central corneal porcelain white plaque, growth of neovascularizations and other intraocular structures not observed; psychomotor development, normal, auditive evaluation normal congenital blindness ND Familial, autosomal recessive 31y - - - - Johan den Dunnen 00428315
0000319220 born at term, normal weight; early childhood bilateral blindness; 35y-no light sensation, enophthalmos, ocular shrinkage, corneal leukoma, no growth of massive neovascularizations/other intraocular structures; mild sensorineural deafness; MRI brain normal; mild cognitive impairment (22/30) congenital blindness ND Familial, X-linked recessive 35y - - - - Johan den Dunnen 00428316
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