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Summary
FAZIO-LONDE SYNDROME
BULBAR PALSY, PROGRESSIVE, OF CHILDHOOD
211500
OMIM = Online Medalian Inheritance of Men
56965
20p13
very rare
autosomal recessive
mutations in the SLC52A3 gene
symptoms
hearing defect, deafness
hyperreflexia
muscle weakness
onset, adolescent
onset, childhood
onset, infancy
pontobulbar palsy
ptosis (drooping eyelid)
respiratory insufficiency
swallowing difficulties
laboratory finding
Dicarboxylic acids mmol/mol creatinineurine
Ethylmalonic acid20.00100.00 mmol/mol Creaurine
Glutaric acid50.00250.00 mmol/mol Creaurine
Literature
Radke J,Stenzel W, Goebel HHHuman NCL NeuropathologyBiochim Biophys Acta1852102262-22662015
Radke J,Stenzel W, Goebel HHHuman NCL NeuropathologyBiochim Biophys Acta1852102262-22662015
Radke J,Stenzel W, Goebel HHHuman NCL NeuropathologyBiochim Biophys Acta1852102262-22662015
Radke J,Stenzel W, Goebel HHHuman NCL NeuropathologyBiochim Biophys Acta1852102262-22662015
Radke J,Stenzel W, Goebel HHHuman NCL NeuropathologyBiochim Biophys Acta1852102262-22662015
Radke J,Stenzel W, Goebel HHHuman NCL NeuropathologyBiochim Biophys Acta1852102262-22662015