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PHOSPHOSERINE PHOSPHATASE DEFICIENCY (PSPH)

PHOSPHOSERINE PHOSPHATASE DEFICIENCY (PSPH)
PSPHD
614023
OMIM = Online Mendelian Inheritance of Men
79350
phosphoserine phosphatase
3.1.3.3
7p11.2
E72.8
very rare
autosomal recessive
mutation in the PSPH gene
Laboratory findings    Glycine dec (plasma)
    L-Serine dec (plasma)
    L-Serine dec (cerebrospinal fluid)
Symptoms    cerebral atrophy
    EEG abnormalities [-]
    growth retardation, poor growth
    intellectual disability/intellectual developmental disorder
    microcephaly (<2 SD for age)
    motor retardation
    neuropathy
    onset, infancy
    psychomotor retardation
    seizures