Disease #02253 (NYS-1 (nystagmus, type 1, congenital, X-linked (NYS-1)), OMIM:310700)

Official abbreviation NYS-1
Name nystagmus, type 1, congenital, X-linked (NYS-1)
OMIM ID 310700
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 11
Phenotype entries for this disease 11
Associated with 1 gene FRMD7
Associated tissues -
Disease features -
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Individuals

11 entries on 1 page. Showing entries 1 - 11.
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00035871 - - 2-generation family, affected male and heterozygous carrier mother M - Germany - - 0 - - NYS-1 congenital nystagmus FRMD7 FRMD7 1 1 Andreas Laner
00088176 NYS-001 PubMed: Thomas 2017, Journal: Thomas 2017 3-generation family, 2 affected F;M - United Kingdom (Great Britain) - - 0 - - NYS-1 BCVA - 0.2 LogMAR Horizontal Jerk nystagmus - FRMD7 1 2 Mervyn Thomas
00088178 NYS-003 PubMed: Thomas 2017, Journal: Thomas 2017 4-generation family, 10 affected (3F, 7M) F;M - United Kingdom (Great Britain) - - 0 - - NYS-1 BCVA 0.18 LogMAR Horizontal Jerk with periodic alternating nystagmus - FRMD7 1 10 Mervyn Thomas
00088182 NYS-007 PubMed: Thomas 2017, Journal: Thomas 2017 4-generation family, 5 affected (3F, 2M) F;M - United Kingdom (Great Britain) - - 0 - - NYS-1 BCVA 0.18 Horizontal jerk nystagmus FRMD7 FRMD7 1 3 Mervyn Thomas
00088184 NYS-009 PubMed: Thomas 2017, Journal: Thomas 2017 2-generation family, affected mother/daughter F - United Kingdom (Great Britain) - - 0 - - NYS-1 BCVA = 0.775 LogMAR Horizontal and Vertical jerk nystagmus - TYRP1 1 2 Mervyn Thomas
00320076 172087 - - M ? Germany - - 0 - - NYS-1 Congenital nystagmus, possible foveal hypoplasia FRMD7 FRMD7 1 1 Andreas Laner
00324433 F3:III-1 - - M - - - - - - - NYS-1 Reduced VA (0.425 logmar BE), Nystagmus, grade 1 foveal hypoplasia, - FRMD7 1 2 Mervyn Thomas
00384258 13219 PubMed: Wang 2019 - M - China - - 0 - - NYS-1 - FRMD7 FRMD7 1 1 LOVD
00384294 13503 PubMed: Wang 2019 - M - China - - 0 - - NYS-1 - FRMD7 FRMD7 1 1 LOVD
00384309 13595 PubMed: Wang 2019 - F - China - - 0 - - NYS-1 - FRMD7 FRMD7 1 1 LOVD
00384374 14063 PubMed: Wang 2019 - M - China - - 0 - - NYS-1 - FRMD7 FRMD7 1 1 LOVD
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