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CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (CDG2T)

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt (CDG2T)
GALNT2-CDG
618885
OMIM = Online Mendelian Inheritance of Men
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1q42.13
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very rare
autosomal recessive
mutation in the GALNT2 gene
Laboratory findings    HDL-Cholesterol dec (serum)
    Triglycerides dec (serum)
    Vitamin D dec (serum)
Symptoms    anemia
    behavior, abnormal or bizarre, confusion
    behavior, autism or autistic-like
    brachycephaly
    constipation
    defect of walking, running, rising or climbing
    developmental delay
    dysmorphism
    dysphagia
    epilepsy
    feeding difficulties, poor feeding
    gait disturbance
    growth retardation, poor growth
    hypertelorism
    hypotonia
    intellectual disability/intellectual developmental disorder
    large or wide mouth
    long facies
    low set ears
    microcephaly (<2 SD for age)
    nystagmus
    onset, childhood
    onset, infancy
    seizures
    short philtrum
    short stature
    speech development, delayed, abnormal
    strabismus
    white matter changes, abnormalities