Disease #02369 (PBD1B (peroxisome biogenesis disorder, type 1B (PBD1B, (NALD/IRD))), OMIM:601539)

Official abbreviation PBD1B
Name peroxisome biogenesis disorder, type 1B (PBD1B, (NALD/IRD))
OMIM ID 601539
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 0
Associated with 1 gene PEX1
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Individuals

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00401309 115P - - M no Spain - - - - - HMLR1, ID, PBD1A, PBD1B - - PEX1 2 1 Alejandro Brea-Fernández
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