Phenotypes for disease #02116 (USH2A (Usher syndrome,, type 2A (USH2A)), OMIM:276901)

39 entries on 1 page. Showing entries 1 - 39.
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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     
0000045644 high tone HL, no vision problems yet - - Familial, autosomal recessive - - - - - Zippi Brownstein 00059054
0000046747 Congenital, moderate HL; retinitis pigmentosa? - - Familial, autosomal recessive - - - - - Zippi Brownstein 00060258
0000082881 - - - Familial, autosomal recessive - - - - - Marta de Castro-Miró 00104992
0000082917 - - - Familial, autosomal recessive - - - - - Marta de Castro-Miró 00105026
0000082918 - - - Familial, autosomal recessive - - - - - Marta de Castro-Miró 00105027
0000082919 - - - Familial, autosomal recessive - - - - - Marta de Castro-Miró 00105028
0000082920 - - - Familial, autosomal recessive - - - - - Marta de Castro-Miró 00105029
0000127876 - Usher syndrome - Familial, autosomal recessive - - - - - Dror Sharon 00155376
0000257186 - Usher syndrome Usher syndrome Familial, autosomal recessive - - - - - Barbara Vona 00361791
0000257187 - Usher syndrome Usher syndrome Familial, autosomal recessive - - - - - Barbara Vona 00361792
0000257188 - Usher syndrome Usher syndrome Familial, autosomal recessive - - - - - Barbara Vona 00361793
0000257189 - Usher syndrome Usher syndrome Familial, autosomal recessive - - - - - Barbara Vona 00361794
0000257190 - Usher syndrome Usher syndrome Familial, autosomal recessive - - - - - Barbara Vona 00361795
0000257191 - Usher syndrome Usher syndrome Familial, autosomal recessive - - - - - Barbara Vona 00361796
0000257192 - Usher syndrome Usher syndrome Familial, autosomal recessive - - - - - Barbara Vona 00361797
0000257193 - Usher syndrome Usher syndrome Familial, autosomal recessive - - - - - Barbara Vona 00361798
0000326683 Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510, Moderate sensorineural hearing impairment HP:0008504 Usher syndrome # 276901 Familial, autosomal recessive 15y 37y - 6y - Rocio Villafuerte-de la Cruz 00436505
0000326684 Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510, Moderate sensorineural hearing impairment HP:0008504 Usher syndrome # 276901 Familial, autosomal recessive 15y 25y 12y 12y - Rocio Villafuerte-de la Cruz 00436506
0000326719 Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510, Moderate sensorineural hearing impairment HP:0008504 Usher syndrome # 276901 Familial, autosomal recessive 19y 45y 19y - - Rocio Villafuerte-de la Cruz 00436542
0000326720 Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510, Moderate sensorineural hearing impairment HP:0008504 Usher syndrome # 613809 Familial, autosomal recessive 19y 31y 19y 19y - Rocio Villafuerte-de la Cruz 00436544
0000326721 Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510, Moderate sensorineural hearing impairment HP:0008504 Usher syndrome # 613809 Familial, autosomal recessive 20y 51y 20y 20y - Rocio Villafuerte-de la Cruz 00436570
0000326722 Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510, Moderate sensorineural hearing impairment HP:0008504 Usher syndrome # 276901 Familial, autosomal recessive 09y 46y 09y 9y - Rocio Villafuerte-de la Cruz 00436571
0000326723 Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510, Moderate sensorineural hearing impairment HP:0008504 Usher syndrome # 276901 Familial, autosomal recessive 12y 35y 12y 12y - Rocio Villafuerte-de la Cruz 00436572
0000326724 Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510, Moderate sensorineural hearing impairment HP:0008504 Usher syndrome # 276901 Familial, autosomal recessive 06y 58y 06y 58y - Rocio Villafuerte-de la Cruz 00436573
0000326725 Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510, Moderate sensorineural hearing impairment HP:0008504 Usher syndrome # 276901 Familial, autosomal recessive 38y 45y 38y 38y - Rocio Villafuerte-de la Cruz 00436574
0000326726 Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510, Moderate sensorineural hearing impairment HP:0008504 Usher syndrome # 276901 Familial, autosomal recessive 15y 45y 15y 15y - Rocio Villafuerte-de la Cruz 00436575
0000326727 Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510, Moderate sensorineural hearing impairment HP:0008504 Usher syndrome # 276901 Familial, autosomal recessive 08y 72y 08y 8y - Rocio Villafuerte-de la Cruz 00436576
0000326728 Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510, Moderate sensorineural hearing impairment HP:0008504 Usher syndrome # 276901 Familial, autosomal recessive 15y 23y 15y 15y - Rocio Villafuerte-de la Cruz 00436577
0000326729 Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510, Moderate sensorineural hearing impairment HP:0008504 Usher syndrome # 276901 Familial, autosomal recessive 15y 55y 15y 15y - Rocio Villafuerte-de la Cruz 00436578
0000326730 Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510, Moderate sensorineural hearing impairment HP:0008504 Usher syndrome # 276901 Familial, autosomal recessive 18y 63y 18y 18y - Rocio Villafuerte-de la Cruz 00436579
0000326731 Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510, Moderate sensorineural hearing impairment HP:0008504 Usher syndrome # 276901 Familial, autosomal recessive 15y 52y 15y 15y - Rocio Villafuerte-de la Cruz 00436580
0000326732 Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510, Moderate sensorineural hearing impairment HP:0008504 Usher syndrome # 276901 Familial, autosomal recessive 25y 38y 25y 25y - Rocio Villafuerte-de la Cruz 00436581
0000326733 Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510, Moderate sensorineural hearing impairment HP:0008504 Usher syndrome # 276901 Familial, autosomal recessive 14y 42y 14y 14y - Rocio Villafuerte-de la Cruz 00436582
0000326734 Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510, Moderate sensorineural hearing impairment HP:0008504 Usher syndrome # 276901 Familial, autosomal recessive 13y 44y 13y 13y - Rocio Villafuerte-de la Cruz 00436583
0000326735 Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510, Moderate sensorineural hearing impairment HP:0008504 Usher syndrome # 276901 Familial, autosomal recessive 15y 52y 15y 15y - Rocio Villafuerte-de la Cruz 00436584
0000326736 Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510, Moderate sensorineural hearing impairment HP:0008504 Usher syndrome # 276901 Familial, autosomal recessive 13y 51y 13y 13y - Rocio Villafuerte-de la Cruz 00436585
0000326737 Photophobia HP:0000613, Reduced visual acuity HP:0007663, Large central visual field defect HP:0001129, Color vision defect HP: 0000551 Retinal dystrophy # 276901 Familial, autosomal recessive 27y 82y 27y 27y - Rocio Villafuerte-de la Cruz 00436586
0000326738 Photophobia HP:0000613, Reduced visual acuity HP:0007663, Large central visual field defect HP:0001129, Color vision defect HP: 0000551 Retinal dystrophy # 608051 Familial, autosomal recessive 04y 27y 04y 4y - Rocio Villafuerte-de la Cruz 00436587
0000350873 retinitis pigmentosa - - Isolated (sporadic) - - - - - Vianey Ordoñez-Labastida 00465321
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