Disease: Severe psychomotor retardation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1854919
Disease: Severe psychomotor retardation
Severe psychomotor retardation 		0.010 GeneticVariation phenotype BEFREE We identified a homozygous missense mutation, c.1308 G→A (p.V421M) in FOXRED1 in a patient who presented with epilepsy and severe psychomotor retardation. 27215383 2016