| EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1; EDSSPD1 | |
| GALACTOSYLTRANSFERASE I DEFICIENCY | |
|
130070
OMIM = Online Mendelian Inheritance of Men | |
|
75496 | |
| Beta-1,4-galactosyltransferase 7 | |
| 2.4.1.133 | |
rare autosomal recessive mutation in the B4GALT7 gene | |
| Laboratory findings | no specific laboratory findings (P, S, U ,CSF) () |
| Symptoms | arachnodyctyly dental abnormalities dwarfism dysmorphism failure to thrive frontal bossing hair, abnormal (thin, brittle, fine) hypertelorism hypotonia intellectual disability/intellectual developmental disorder 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) |