Disease: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2677903
Disease: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 		0.710 Biomarker disease GENOMICS_ENGLAND Here, we present a comprehensive investigation of 41 MICPCH patients, analyzed by mutational search of CASK and screening of candidate genes using an SNP array, targeted resequencing and whole-exome sequencing (WES). 28783747 2017
CUI: C2677903
Disease: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 		0.710 GeneticVariation disease BEFREE In addition, we report the second male patient to present with a severe MICPCH phenotype and a de novo CASK mutation and describe for the first time a mildly affected male patient harboring a mosaic mutation. 22452838 2012
CUI: C2677903
Disease: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 		0.710 CausalMutation disease CLINVAR Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). 21735175 2012
CUI: C2677903
Disease: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 		0.710 CausalMutation disease CLINVAR Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations. 23165780 2012
CUI: C2677903
Disease: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 		0.710 GeneticVariation disease UNIPROT A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 19377476 2009
CUI: C2677903
Disease: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 		0.710 GeneticVariation disease UNIPROT Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. 19165920 2008
CUI: C2677903
Disease: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 		0.710 CausalMutation disease CLINVAR Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. 19165920 2008
CUI: C2677903
Disease: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 		0.710 Biomarker disease GENOMICS_ENGLAND Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. 19165920 2008
CUI: C2677903
Disease: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 		0.710 Biomarker disease CTD_human
CUI: C2677903
Disease: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 		0.710 GeneticVariation disease CLINVAR
CUI: C2677903
Disease: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 		0.710 GermlineCausalMutation disease ORPHANET
CUI: C2677903
Disease: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 		0.710 Biomarker disease GENOMICS_ENGLAND