All diseases

1 entry on 1 page. Showing entry 1.
Legend   How to query  

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
03124 MRD22;del1q43q44 mental retardation, autosomal dominant, type 22 (1q43-q44 deletion syndrome) 612337 AD 2 1 ZBTB18 - moderate-severe intellectual disability; limited or no speech; variable but characteristic facial features (round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, low-set ears); hypotonia; poor growth; microcephaly; agenesis corpus callosum; seizures
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.