TCTN1, tectonic family member 1, 79600

N. diseases: 82; N. variants: 4
Disease: Occipital Encephalocele ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		0.010 GeneticVariation disease BEFREE Reviewing the clinical data on patients with sequence variants in the tectonic genes TCTN1-3 reveals that all of them have a neurological phenotype with vermis hypoplasia or occipital encephalocele associated with severe intellectual disability in the surviving patients. 25118024 2015