Warning: simplexml_load_file(http://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pubmed&id=10405446&retmode=xml): Failed to open stream: HTTP request failed! HTTP/1.1 429 Too Many Requests in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 564 Warning: simplexml_load_file(): I/O warning : failed to load external entity "http://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pubmed&id=10405446&retmode=xml" in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 564 Warning: Attempt to read property "PubmedArticle" on bool in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 565 Warning: Attempt to read property "MedlineCitation" on null in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 565 Warning: Attempt to read property "Article" on null in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 565 Warning: Attempt to read property "AuthorList" on null in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 565 Warning: Attempt to read property "PubmedArticle" on bool in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 566 Warning: Attempt to read property "MedlineCitation" on null in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 566 Warning: Attempt to read property "Article" on null in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 566 Warning: Attempt to read property "Journal" on null in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 566 Warning: Attempt to read property "Title" on null in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 566 Warning: Attempt to read property "PubmedArticle" on bool in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 567 Warning: Attempt to read property "MedlineCitation" on null in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 567 Warning: Attempt to read property "Article" on null in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 567 Warning: Attempt to read property "Journal" on null in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 567 Warning: Attempt to read property "JournalIssue" on null in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 567 Warning: Attempt to read property "PubDate" on null in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 567 Warning: Attempt to read property "Month" on null in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 567 Warning: Attempt to read property "PubmedArticle" on bool in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 568 Warning: Attempt to read property "MedlineCitation" on null in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 568 Warning: Attempt to read property "Article" on null in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 568 Warning: Attempt to read property "Journal" on null in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 568 Warning: Attempt to read property "JournalIssue" on null in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 568 Warning: Attempt to read property "PubDate" on null in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 568 Warning: Attempt to read property "Year" on null in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 568 Warning: Attempt to read property "PubmedArticle" on bool in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 569 Warning: Attempt to read property "MedlineCitation" on null in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 569 Warning: Attempt to read property "Article" on null in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 569 Warning: Attempt to read property "ArticleTitle" on null in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 569 Warning: Attempt to read property "PubmedArticle" on bool in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 571 Warning: Attempt to read property "MedlineCitation" on null in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 571 Warning: Attempt to read property "Article" on null in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 571 Warning: Attempt to read property "Affiliation" on null in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 571 Warning: Attempt to read property "Author" on null in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 573 Warning: foreach() argument must be of type array|object, null given in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 573
![]() |
Prevalence (%) of clinical parameters based on data from 2 references describing 21 individuals Add new symptom/sign to this disease
List of symptoms
List of references: Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Thomas Cullup, Ay Lin Kho, Carlo Dionisi-Vici, Birgit Brandmeier, Frances Smith, Zoe Urry, Michael A Simpson, Shu Yau, Enrico Bertini, Verity McClelland, Mohammed Al-Owain, Stefan Koelker, Christian Koerner, Georg F Hoffmann, Frits A Wijburg, Amber E ten Hoedt, R Curtis Rogers, David Manchester, Rie Miyata, Masaharu Hayashi, Elizabeth Said, Doriette Soler, Peter M Kroisel, Christian Windpassinger, Francis M Filloux, Salwa Al-Kaabi, Jozef Hertecant, Miguel Del Campo, Stefan Buk, Istvan Bodi, Hans-Hilmar Goebel, Caroline A Sewry, Stephen Abbs, Shehla Mohammed, Dragana Josifova, Mathias Gautel, Heinz Jungbluth, Nature genetics - Jan 2013 - |