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
Created by	Johan den Dunnen
Date created	2022-04-28 10:16:14 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD