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Summary
CEROID LIPOFUSCINOSIS, NEURONAL, 14
CLN14 EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS EPM3
611276
OMIM = Online Medalian Inheritance of Men
263516
7q11.21
rare
autosomal recessive
mutation in the KCTD7 gene
symptoms
abnormal movement
ataxia
blindness, visual loss, visual impairment
cerebellar atrophy or hypoplasia
cerebral atrophy
epilepsy
hypokinesia
mental retardation
onset, childhood
onset, infancy
optic atrophy
seizures
speech difficulties
laboratory finding
Electron microscopy - abnormaltissues
MRI, brain, abnormalities - ---
EEG abnormalities - ---
Literature
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
Rochira V,Carani C.Aromatase deficiency in men: a clinical perspectiveNat Rev Endocrinol510559-5682009
Marino R,et al.Five new cases of 46,XX aromatase deficiency: clinical follow-up from birth to puberty, a novel mutation, and a founder effect.J Clin Endocrinol Metab1002e301-e3072015