Disease #01803 (GM1G2 (gangliosidosis, GM1, type II), OMIM:230600)

Official abbreviation GM1G2
Name gangliosidosis, GM1, type II
OMIM ID 230600
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 4
Phenotype entries for this disease 3
Associated with 1 gene GLB1
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Individuals

4 entries on 1 page. Showing entries 1 - 4.
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00087249 - PubMed: Peric 2017, Journal: Peric 2017 - F - Serbia Serbian - - - - GM1G2 - - TTN 2 1 Ana Topf
00306916 - - - F no - - - - - - GM1G2 HP:0001263 Global developmental delay HP:0002344 Progressive neurologic deterioration HP:0001249 Intellectual disability HP:0002808 Kyphosis HP:0002650 Scoliosis HP:0000505 Visual impairment GLB1 GLB1 2 1 Sarah Snanoudj
00307037 - - - M no - - - - - - GM1G2 HP:0000708 Behavioral abnormality HP:0001288 Gait disturbance HP:0001263 Global developmental delay HP:0001249 Intellectual disability HP:0002344 Progressive neurologic deterioration GLB1 GLB1 2 1 Sarah Snanoudj
00373717 iw104 - - M no China Chinese - - - - GM1G2 HP:0001249; HP:0012751; HP:0001263; HP:0000750; HP:0002194; HP:0010862 GLB1 GLB1 1 1 Wenjuan Qiu
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