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HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1; HPMRS1

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1; HPMRS1
MABRY SYNDROME
239300
OMIM = Online Mendelian Inheritance of Men
247262
GPI mannosyltransferase 2
1p36.11
very rare
autosomal recessive
mutation in the PIGV gene
Laboratory findings    Phosphatase, alkaline inc (serum)
Symptoms    anal anomalies
    athetosis
    cardiac involvement, cardiac defects
    cleft palate
    dysmorphism
    EEG abnormalities [-]
    epilepsy
    hearing defect, deafness
    hypertelorism
    hypotonia
    mental retardation
    onset, infancy
    onset, neonatal
    plagiocephaly
    renal dysfunction, renal defects
    seizures
    speech development, delayed, abnormal