The patient is a boy of Estonian and Spanish origin with early-onset muscular hypotonia and delayed motor development.
Case#: proband, young boy
DiseaseAssertion: muscular hypotonia
CasePresentingHPOs: HP:0008947, HP:0008947, HP:0002421, HP:0006829, HP:0008994, HP:0008981
"Infantile muscular hypotonia, delayed motor development, poor head control, severe muscular hypotonia, proximal muscle weakness in lower limbs, calf muscle hypertrophy"
CasePreviousTesting: ENMG at 3.5 months interpreted as normal, but at 6 months showed features of myopathy or muscular dystrophy
GenotypingMethod: Whole exome sequencing (WES) of the parents-offspring trio, Mutation was confirmed as de novo with Sanger sequencing. In silico analysis using both MutationTaster and MutPred Splice predicted the variant to disrupt splicing
Variant: NM_000257.4:c.5655G>A
ClinVar: 378215
CAID: CA16606815
gnomAD: https://gnomad.broadinstitute.org/variant/14-23883216-C-T
Total Allele Frequency: 0.00001193 European (non-Finnish): 0.00002637