Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.010 GeneticVariation disease BEFREE Two consanguineous families segregating the phenotype of severe primary microcephaly, spasticity and failure to thrive had overlapping autozygomes in which exome sequencing identified homozygous splicing variants in CIT that segregate with the phenotype within each family. 27503289 2016