Disease #02508

Official abbreviation LCA-4
Name Leber congenital amaurosis, type 4 (LCA-4)
OMIM ID 604393
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 11
Phenotype entries for this disease 11
Associated with 1 gene AIPL1
Associated tissues -
Disease features -
Remarks -


Individuals

11 entries on 1 page. Showing entries 1 - 11.
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00033391 - - - - no Italy Italian - 0 - - LCA-4 Rdwith Md; Onset Nystagmus, No Keratoconus AIPL1 AIPL1 2 1 Raheel Qamar
00033392 - - - - no Italy Italian - 0 - - LCA-4 Rdwith Md; Onset Nystagmus, No Keratoconus AIPL1 AIPL1 2 1 Raheel Qamar
00033449 - - - - no Italy Italian - 0 - - LCA-4 Rdwith Md; Onset Nystagmus, No Keratoconus AIPL1 AIPL1 2 1 Raheel Qamar
00033497 - - - - no Italy Italian - 0 - - LCA-4 salt andpepper fundus; Onset Nystagmus, No Keratoconus AIPL1 AIPL1 2 1 Raheel Qamar
00033544 - - - - no Italy Italian - 0 - - LCA-4 Rdwith Md; Onset Nystagmus, No Keratoconus AIPL1 AIPL1 2 1 Raheel Qamar
00033545 - - - - no Italy Italian - 0 - - LCA-4 Rdwith Md; Onset Nystagmus, No Keratoconus AIPL1 AIPL1 2 1 Raheel Qamar
00033546 - - - - no Italy Italian - 0 - - LCA-4 Rdwith Md; Onset Right Eye Keratoconus AIPL1 AIPL1 2 1 Raheel Qamar
00033547 - - - - no Italy Italian - 0 - - LCA-4 Rdwith Md; Onset Right Eye Keratoconus AIPL1 AIPL1 2 1 Raheel Qamar
00033548 - - - - no Italy Italian - 0 - - LCA-4 Rdwith Md; Onset Nystagmus, No Keratoconus AIPL1 AIPL1 2 1 Raheel Qamar
00033567 - - - - no Italy Italian - 0 - - LCA-4 Rdwith Md; Onset Right Eye Keratoconus AIPL1 AIPL1 2 1 Raheel Qamar
00081025 - Trujillano et al., submitted unaffected parents - - - - - 0 - - LCA-4 Leber congenital amaurosis 4 (OMIM:604393) AIPL1 AIPL1 1 1 Daniel Trujillano
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