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Summary
CEROID LIPOFUSCINOSIS, NEURONAL, 13
CLN13 CEROID LIPOFUSCINOSIS, NEURONAL, 13, KUFS TYPE
615362
OMIM = Online Medalian Inheritance of Men
352709
11q13.2
rare
autosomal recessive
mutation in the CTSF gene
symptoms
ataxia
behavior, abnormal or bizarre, confusion
cerebellar atrophy or hypoplasia
cerebral atrophy
dementia
depression
dysarthria
dyskinesia
extrapyramidal signs
hyperreflexia
myoclonus
onset, adulthood
seizures
tremor or twitching
laboratory finding
Literature
Ludwikowski B,et al.Aromatase deficiency: rare cause of virilizationEur J Pediatr Surg235418-4222013
Sommer A,et al.The molecular basis of aminoacylase 1 deficiency.Biochim Biophys Acta18126685-6902011
Ferri L,et al.Aminoacylase I deficiency due to ACY1 mRNA exon skipping.Clin Genet864367-3722014
Erez A,Nagamani SC, Lee BArgininosuccinate lyase deficiency-argininosuccinic aciduria and beyondAm J Med Genet C Semin Med Genet157045-532011