Disease #02116 (USH-2A (Usher syndrome, type 2A (USH-2A)), OMIM:276901)

Official abbreviation USH-2A
Name Usher syndrome, type 2A (USH-2A)
OMIM ID 276901
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 17
Phenotype entries for this disease 16
Associated with 2 genes PDZD7, USH2A
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Individuals

17 entries on 1 page. Showing entries 1 - 17.
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00059054 - Karen Avraham laboratory, Tel Aviv university, Israel, unpublished - - yes Israel Arab - 0 - - USH-2A high tone HL, no vision problems yet - USH2A 1 2 Zippi Brownstein
00060258 - PubMed: Behar 2014, Journal: Behar 2014 3-generation family, 2 affecteds (F, M), unaffected carrier parents/sibs; family segregates GJB2 and USH2A variants F;M no Israel Iraq, Jewish; Iraq, Jewish (Ashkenazi) - 0 - - USH-2A Congenital, moderate HL; retinitis pigmentosa? - GJB2, USH2A 3 3 Zippi Brownstein
00104992 79ORG1 PubMed: de Castro-Miró 2016 - F no Uganda - - 0 - - USH-2A - - USH2A 2 1 Marta de Castro-Miró
00105026 - PubMed: de Castro-Miró 2014 - F no Spain - - 0 - - USH-2A - - USH2A 2 1 Marta de Castro-Miró
00105027 - PubMed: de Castro-Miró 2014 - F yes Spain - - 0 - - USH-2A - - USH2A 1 1 Marta de Castro-Miró
00105028 - PubMed: de Castro-Miró 2014 - M no Spain - - 0 - - USH-2A - - USH2A 2 1 Marta de Castro-Miró
00105029 - PubMed: de Castro-Miró 2014 - M ? Spain - - 0 - - USH-2A - - USH2A 1 1 Marta de Castro-Miró
00155376 - Sharon, submitted - M yes Israel Russian Jewish - 0 - - USH-2A - GPR98 GPR98 1 2 Dror Sharon
00266318 - - - F - - - - 0 - - USH-2A Congenital sensorineural hearing impairment (HP:0008527), Myopia (HP:0000545), Nyctalopia (HP:0000662), Rod cone dystrophy (HP:0000510) - USH2A 1 1 Omamah Jiman
00361791 Patient 19 Bahena et al., 2021 (submitted) - M yes Iran - - 0 - - USH-2A - - USH2A 1 2 Barbara Vona
00361792 Patient 20 Bahena et al., 2021 (submitted) - F yes Iran - - 0 - - USH-2A - USH2A USH2A 1 2 Barbara Vona
00361793 Patient 21 Bahena et al., 2021 (submitted) - F yes Iran - - 0 - - USH-2A - - USH2A 2 1 Barbara Vona
00361794 Patient 22 Bahena et al., 2021 (submitted) - F yes Iran - - 0 - - USH-2A - - USH2A 1 1 Barbara Vona
00361795 Patient 23 Bahena et al., 2021 (submitted) - F yes Iran - - 0 - - USH-2A - - USH2A 1 2 Barbara Vona
00361796 Patient 24 Bahena et al., 2021 (submitted) - F yes Iran - - 0 - - USH-2A - - USH2A 1 2 Barbara Vona
00361797 Patient 25 Bahena et al., 2021 (submitted) - M yes Iran - - 0 - - USH-2A - - USH2A 2 2 Barbara Vona
00361798 Patient 26 Bahena et al., 2021 (submitted) - M yes Iran - - 0 - - USH-2A - - USH2A 1 1 Barbara Vona
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