Condition: Cerebral white matter atrophy


rs1554333853 in CDK13 gene and Cerebral white matter atrophy PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs779027563 in CNTNAP1 gene and Cerebral white matter atrophy PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs1557043622 in SLC35A2 gene and Cerebral white matter atrophy PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.