GM1-gangliosidosis, type I
| Disorder | |
|---|---|
| OMIM #: | #230500 (Click to access OMIM database) |
| Disorder: | GM1-gangliosidosis, type I |
| Also known as: | GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I GANGLIOSIDOSIS, GENERALIZED GM1, INFANTILE FORM GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 1 BETA-GALACTOSIDASE-1 DEFICIENCY GLB1 DEFICIENCY |
| Clinical | |
| Phenotype: | rapid psychomotor deterioration, developmental delay, cerebral deterioration, hepatomegaly, splenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, vertebral defects, sudden death |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | GLB1 |
| Base Change: | C>T, at nucleotide 902 |
| Amino Acid Change: | |
| Last updated: | 2022-11-04 |
| References |
|---|
| Personal communication; seen at CSC. |
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