Condition: Abnormality of brain morphology


rs397515352 in CLN6 gene and Abnormality of brain morphology PMID 23735787 2013 CLN6 disease caused by the same mutation originating in Pakistan has varying pathology.

rs773850151 in FBXL4 gene and Abnormality of brain morphology PMID 25868664 2015 Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.

PMID 27743463 2017 FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome.

rs312262830 in OFD1 gene and Abnormality of brain morphology PMID 24884629 2014 CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.

PMID 18546297 2008 Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.

rs869312812 in PGAP3 gene and Abnormality of brain morphology PMID 27120253 2016 Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.

PMID 28390064 2018 PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.

rs587777819 in POMT1 gene and Abnormality of brain morphology PMID 17878207 2007 Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

rs121918104 in PSAP gene and Abnormality of brain morphology PMID 19955343 2009 Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature.

rs886037931 in PYCR2 gene and Abnormality of brain morphology PMID 27860360 2017 Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.

rs672601372 in RARS1 gene and Abnormality of brain morphology PMID 24777941 2014 Mutations in RARS cause hypomyelination.

PMID 28905880 2017 Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.

rs201257588 in TBC1D24 gene and Abnormality of brain morphology PMID 24291220 2014 The genetic basis of DOORS syndrome: an exome-sequencing study.

PMID 25169651 2014 DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.