Disease #03460 (LCA15 (Leber congenital amaurosis, type 15 (LCA-15)), OMIM:613843)

Official abbreviation LCA15
Name Leber congenital amaurosis, type 15 (LCA-15)
OMIM ID 613843
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 12
Phenotype entries for this disease 8
Associated with 1 gene TULP1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

12 entries on 1 page. Showing entries 1 - 12.
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00087826 - PubMed: Hanein 2004 - - - Italy - - - - - LCA15 Congenital nystagmus,no or verypoor ocular pursuit,digito-ocular signs of franceschetti attesting of profoundly impaired vision,no recordable erg since birth or the first months of life TULP1 TULP1 2 1 Raheel Qamar
00087833 - PubMed: den Hollander 2007 ? F yes Afghanistan - - - - - LCA15 Mild temporal pallor annular ring : yellow perifoveal, TULP1 TULP1 1 1 Raheel Qamar
00087834 - PubMed: den Hollander 2007 - M yes Afghanistan - - - - - LCA15 Mild temporal pallor annular ring : yellow perifoveal, TULP1 TULP1 1 1 Raheel Qamar
00087842 - PubMed: Banerjee 1998, ? - - Dominican Republic - - - - - LCA15 - TULP1 TULP1 1 1 Raheel Qamar
00087878 - PubMed: den Hollander 2007 ? M yes Turkey - - - - - LCA15 Mild attenuation, rpe mottling, withround, atrophiclesions of the rpe with bone spicules TULP1 TULP1 1 1 Raheel Qamar
00087881 - PubMed: Hanein 2004 - - ? - - - - - - LCA15 Congenital nystagmus, no or verypoor ocular pursuit, digito-ocular signs of franceschetti attesting of profoundly impaired vision, and no recordableerg since birth or the first months of life. TULP1 TULP1 1 1 Raheel Qamar
00087895 - PubMed: Hanein 2004 - - ? - - - - - - LCA15 Congenital nystagmus, no or verypoor ocular pursuit, digito-ocular signs of franceschetti attesting of profoundly impaired vision, and no recordableerg since birth or the first months of life. TULP1 TULP1 1 1 Raheel Qamar
00087904 - PubMed: den Hollander 2007 ? M yes Mexico - - - - - LCA15 Arteriolar attenuation, nyctalopia, photoaversion,head bobbing, and side and central visual difficulties TULP1 TULP1 1 1 Raheel Qamar
00411338 Fam13Pat1 PubMed: Sharon 2020, PubMed: Ben Yosef 2023 family, 2 affected M no Israel Ethiopia;Jew - - - - LCA15 - - TULP1 1 2 Tamar Ben-Yosef
00411339 Fam13Pat2 PubMed: Sharon 2020, PubMed: Ben Yosef 2023 sib M no Israel Ethiopia;Jew - - - - LCA15 - - TULP1 1 1 Tamar Ben-Yosef
00411340 Fam14Pat1 PubMed: Sharon 2020, PubMed: Ben Yosef 2023 family, 2 affected F no Israel Ethiopia;Jew - - - - LCA15 - - TULP1 1 2 Tamar Ben-Yosef
00411341 Fam14Pat2 PubMed: Sharon 2020, PubMed: Ben Yosef 2023 sib M no Israel Ethiopia;Jew - - - - LCA15 - - TULP1 1 1 Tamar Ben-Yosef
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