Disease #01702 (PBD1A (peroxisome biogenesis disorder, type 1A (PBD1A, Zellweger syndrome)), OMIM:214100)

Official abbreviation PBD1A
Name peroxisome biogenesis disorder, type 1A (PBD1A, Zellweger syndrome)
OMIM ID 214100
Human Phenotype Ontology Project (HPO) HPO
Inheritance AR
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene PEX1
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Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00081019 - Trujillano et al., submitted unaffected parents - - - - - 0 - - PBD1A Peroxisome biogenesis disorder 1A (Zellweger) (OMIM:214100) PEX1 PEX1 1 1 Daniel Trujillano
00306140 77 - - M - China - - - - - PBD1A - PEX1 PEX1 2 1 Sha Hong
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