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Paper Details

De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
American Journal of Human Genetics
13
2018
14q32, CCNK, CCNK variants, Ccnk, Cyclin K, DD, DD/, Facial Dysmorphism, ID, Lys111Glu, RNA polymerase II, Syndromic Neurodevelopmental Disorder, broad nasal bridge and tip, c, c.331A, curly spinal cord, developmental delay and intellectual disability, dysfunction of, dysmorphic ears, facial dysmorphism, genetic disorders, haploinsufficiency, high hairline, hypertelorism, language defects, mRNA, narrow jaw, neurodevelopmental disorders, syndromic neurodevelopmental disorder, thin eyebrows, wild-type mRNA, zebrafish

Datasets

Release 1.2