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.