Disease #00775 (OCRL (Lowe oculocerebrorenal syndrome (OCRL)), OMIM:309000)

Official abbreviation OCRL
Name Lowe oculocerebrorenal syndrome (OCRL)
OMIM ID 309000
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene OCRL
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

2 entries on 1 page. Showing entries 1 - 2.
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00246689 00004 - - - - - - - - - - OCRL - OCRL OCRL 1 1 Xia Zhang
00403763 patient PubMed: Rendu 2017 2-generation family, 1 affected, unaffected heterozygous carrier mother - - France - - - - - OCRL born at term; normal motor milestones; delayed speech and language; 3y-short stature, bilateral cataracts ; 5y-acute and chronic renal failure after 3w episode of vomiting, headaches, weight loss OCRL OCRL 1 1 Johan den Dunnen
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