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Summary
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 EIEE1 DD
WEST SYNDROME, X-LINKED OHTAHARA SYNDROME, X-LINKED
308350
OMIM = Online Medalian Inheritance of Men
3175
Xp21.3
rare
X-linked recessive
mutation in the aristaless-related homeobox gene
symptoms
chorea or athetosis
dysphagia
dyspnea
dystonia
epilepsy
hyperreflexia
hypertonia, spasticity
hypotonia
mental retardation
myoclonus
onset, infancy
seizures
laboratory finding
MRI, brain, abnormalities -
EEG abnormalities -
no specific laboratory findings (P, S, U ,CSF)
Literature
Murali C,et al.Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasiaMol Genet Metab Rep10213-2192014
Sorte H,et al.Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genesEur J Med Genet553196-2022012
Yang AC,et al.Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophyMol Genet Metab1103345-3512013