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Mol Syndromol. 2016 Feb;6(5):254-8. doi: 10.1159/000441134. Epub 2015 Oct 14.

A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing.

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North of Scotland Regional Genetics Service, Ashgrove House, Foresterhill, UK.
Molecular Genetics Department, University of Aberdeen, Foresterhill, UK.
Department of Paediatric Gastroenterology, Royal Aberdeen Children's Hospital, Foresterhill, UK.
Department of Neonatology, Aberdeen Maternity Hospital, Foresterhill, UK.


Cobalamin F (cblF) disorder, caused by homozygous or compound heterozygous mutations in the LMBRD1 gene, is a recognised cause of developmental delay, pancytopaenia and failure to thrive which may present in the neonatal period. A handful of cases have been reported in the medical literature. We report a new case, diagnosed at the age of 6 years through whole exome sequencing, with atypical features including prominent metopic suture, cleft palate, unilateral renal agenesis and liver abnormalities, which broaden the phenotypic spectrum.


Cobalamin F disorder; LMBRD1 mutation

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