Global Variome shared LOVD

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Phenotype #0000300910 Individual ID 00408756 Associated disease PBD7B Phenotype details 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 Diagnosis/Initial Zelweger Spectrum Disorder (Heimler Syndrome)/Perraul Syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite PDB7B Age/Examination 45y (45 years) Age/Diagnosis 47y Age/Onset 02y Phenotype/Onset - Protein - Owner name Guillermina García Sánchez Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Johan den Dunnen Date created 2022-04-28 10:16:14 +02:00 (CEST) Date last edited N/A

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