Global Variome shared LOVD

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Phenotype #0000300900 Individual ID 00408755 Associated disease PBD7B Phenotype details 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 Diagnosis/Initial Zelweger Spectrum Disorder (Heimler Syndrome)/Perraul Syndrome. Inheritance Familial, autosomal recessive Diagnosis/Definite PBD7B Age/Examination 47y (47 years) Age/Diagnosis 49y Age/Onset 02y Phenotype/Onset - Protein - Owner name Guillermina García Sánchez Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Guillermina García Sánchez Date created 2022-04-27 23:18:43 +02:00 (CEST) Date last edited 2022-04-28 10:11:47 +02:00 (CEST)

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