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Summary
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS (PEERB) DD
618331
OMIM = Online Medalian Inheritance of Men
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16q24.3
very rare
autosomal recessive
mutation in the TRAPPC2L gene
symptoms
cerebral atrophy
defect of walking, running, rising or climbing
developmental regression
encephalopathy
microcephaly (<2 SD for age)
onset, childhood
onset, infancy
rhabdomyolysis
seizures
spastic diplegia/quadriplegia/tetraplegia
speech development, delayed, abnormal
status epilepticus
laboratory finding
Creatine kinase U/lserum
no specific laboratory findings (P, S, U ,CSF) serum
MRI, brain, abnormalities -
Literature
Emperador S,et al.Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathyEur J Hum Genet251153-1562016