Disease #03777 (PBD12A (peroxisome biogenesis disorder, type 12A (PBD12A)), OMIM:614886)

Official abbreviation PBD12A
Name peroxisome biogenesis disorder, type 12A (PBD12A)
OMIM ID 614886
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene PEX19
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Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00334927 PME21 PubMed: Courage 2021, Journal: Courage 2021 family, 2 affected (2M) M yes Malta - - 0 - - PBD12A Sibling pair, both with a history of developmental delay presenting at 7 and 8 years of age with progressive ataxia, occasional myoclonus and TCS and dementia. Associated with limb spasticity. - PEX19 1 2 Carolina Courage
00334928 PME22 PubMed: Courage 2021, Journal: Courage 2021 relative of PME21 M yes Malta - - 0 - - PBD12A see sib - PEX19 1 1 Carolina Courage
00334930 PME60 PubMed: Courage 2021, Journal: Courage 2021 - F no Malta - - 0 - - PBD12A Onset age 8 ataxia, then TCS from age 12, on a background of normal developmental history prior to onset. Progressive severe ataxia. Hypertonia noted. Death age 35. (Affected brother not recruited) - PEX19 1 1 Carolina Courage
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