Disease #03766 (PBD7B (peroxisome biogenesis disorder, type 7B (PBD-7B)), OMIM:614873)

Official abbreviation PBD7B
Name peroxisome biogenesis disorder, type 7B (PBD-7B)
OMIM ID 614873
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene PEX26
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00408755 INRLGII. 64/2019-1 - Affected homozygous sister, from a family of 12 siblings with 5 affected. Parents unaffected first cousins. F yes Mexico (Mestizo);Europe;Amerindian - - yes (pedigree) - PBD7B sensorineural hearing impairment (HP:0000407); bilateral, prelingual onset, moderate-profound, apparently non progressive; ataxia (HP:0001251), onset 2y, stable/slowly progressive; yellow-brown teeth by probable amelogenesis imperfecta (HP:0006286 ), permanent teeth yellow-brown and worn, had several cavities, lost several dental pieces; ,40y cessation of menses (HP:0008209); pubertal development, 13y-menarche - PEX26 1 5 Guillermina García Sánchez
00408756 64/2019-2 - affected sister F yes Mexico (Mestizo);Europe;Amerindian - - - - PBD7B sensorineural hearing impairment (HP:0000407), bilateral, prelingual onset, profound; ataxia (HP:0001251) onset2y, stable/slowly progressive; yellow-brown teeth by probable amelogenesis imperfecta (HP:0006286), permanent teeth yellow-brown and worn, several cavities, lost several dental pieces; <40y-cessation of menses (HP:0008209); 13y- menarche - PEX26 1 1 Guillermina García Sánchez
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