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GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE

GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE
617301
OMIM = Online Mendelian Inheritance of Men
289863
Sodium- and chloride-dependent glycine transporter 1
1p34.1
E72.5
rare
autosomal recessive
mutation in the SLC6A9 gene
Laboratory findingsGlycine inc (cerebrospinal fluid)
    Glycine inc (urine)
Symptoms    apnea
    arthrogryposis
    clubfoot
    developmental delay
    dysmorphism
    encephalopathy
    failure to thrive
    hypertonia, spasticity
    hypotonia
    low set ears
    microcephaly (<2 SD for age)
    MRI, brain, white matter abnormalities [-]
    onset, childhood
    onset, fetus
    onset, infancy
    onset, neonatal
    respiratory insufficiency
    swallowing difficulties
    white matter changes, abnormalities