Disease #01938 (MPS4B (mucopolysaccharidosis, type IVB (MPS4B)), OMIM:253010)

Official abbreviation MPS4B
Name mucopolysaccharidosis, type IVB (MPS4B)
OMIM ID 253010
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 3
Phenotype entries for this disease 2
Associated with 1 gene GLB1
Associated tissues -
Disease features -
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Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00306729 - - - F no - - - 0 - - MPS4B HP:0003330 Abnormal bone structure HP:0001999 Abnormal facial shape HP:0000943 Dysostosis multiplex HP:000320 Skeletal muscle atrophy GLB1 GLB1 2 1 Sarah Snanoudj
00307107 - - - F yes - - - - - - MPS4B - GLB1 GLB1 1 1 Sarah Snanoudj
00307108 - - - F no - - - - - - MPS4B HP:0001999 Abnormal facial shape HP:0000943 Dysostosis multiplex GLB1 GLB1 2 1 Sarah Snanoudj
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