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
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)

Global Variome shared LOVD