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Summary
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 HPMRS1
MABRY SYNDROME
239300
OMIM = Online Medalian Inheritance of Men
247262
1p36.11
very rare
autosomal recessive
mutation in the PIGV gene
symptoms
anal anomalies
athetosis
cardiac involvement, cardiac defects
cleft palate
dysmorphism
epilepsy
hearing defect, deafness
hypertelorism
hypotonia
mental retardation
onset, infancy
onset, neonatal
plagiocephaly
renal dysfunction, renal defects
seizures
speech development, delayed, abnormal
laboratory finding
EEG abnormalities -
Phosphatase, alkaline U/lserum
Literature
Hardin JS,et al.Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case seriesOphthalmic Genet002017
Callewaert BL,et al.Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified familiesHum Mutat291150-1582008
Stover EH,et al.Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing lossJ Med Genet3911796-8032002
Gamberucci A,et al.GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human FibroblastsInt J Mol Sci188E18202017