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Summary
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa CDG1AA
617082
OMIM = Online Medalian Inheritance of Men
442835
6q22.1
very rare
autosomal recessive
mutation in the NUS1 gene
symptoms
blindness, visual loss, visual impairment
decreased spontaneous movements
failure to thrive
hearing defect, deafness
hypertonia, spasticity
hypertrichosis
intrauterine growth retardation
microcephaly (<2 SD for age)
onset, infancy
onset, neonatal
psychomotor retardation
scoliosis
seizures
laboratory finding
Literature
Matheus MG,et al.Redefining the Pediatric Phenotype of X-Linked Monocarboxylate Transporter 8 (MCT8) Deficiency: Implications for Diagnosis and TherapiesJ Child Neurol30121664-16682015