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Summary
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 EDSSPD1
GALACTOSYLTRANSFERASE I DEFICIENCY
130070
OMIM = Online Medalian Inheritance of Men
75496
5q35.3
rare
autosomal recessive
mutation in the B4GALT7 gene
symptoms
arachnodyctyly
dental abnormalities
dwarfism
dysmorphism
failure to thrive
hair, abnormal (thin, brittle, fine)
hypertelorism
hypotonia
intellectual disability/intellectual developmental disorder (ID/ IDD)
joint laxity
low set ears
macrocephaly (large calvaria, >2 SD for age)
onset, childhood
onset, infancy
psychomotor retardation
sclerae, blue or bluish
scoliosis
short stature
skin hyperelasticity
small mid-face (malar or maxillary hypoplasia)
laboratory finding
no specific laboratory findings (P, S, U ,CSF) urine
Literature
Treem WR,Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblastsN Engl J Med319201331-13361998
Kim YM,et al.A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutationMetabolism63142-492014
Auchus RJSteroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologicJ Steroid Biochem Mol Biol165071-782017