Visit Metagene.de!
Summary
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 HPMRS6
616809
OMIM = Online Medalian Inheritance of Men
247262
4q22.1
very rare
autosomal recessive
mutation in the PIGY gene
symptoms
behavior, hyperactive, restless
blindness, visual loss, visual impairment
cataract
clinodactyly
contractures, joints
developmental delay
developmental regression
dysmorphism
feeding difficulties, poor feeding
growth retardation, poor growth
hypotonia
microcephaly (<2 SD for age)
osteopenia
polyhydramnion (maternal)
seizures
speech development, delayed, abnormal
strabismus
laboratory finding
Creatine kinase U/lserum
Phosphatase, alkaline U/lserum
Literature
Smith AN,et al.Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearingNat Genet26171-752000