Phenotype #0000223498

Individual ID	00296031
Associated disease	?
Diagnosis/Initial	keratosis follicularis spinulosa decalvans and retinitis pigmentosa inversa
Diagnosis/Definite	HJMD
Phenotype details	see paper; initial diagnosis keratosis follicularis spinulosa decalvans and retinitis pigmentosa inversa; 1y-absence growing hair, pale skin, sparse scalp hair, punctiform follicular keratosis on cheeks, forehead, eyebrows and anterior surface arms and posterior surface legs, erythema with follicular hyperkeratosis and reduction hair density eyebrows; skin biopsy reduction number scalp follicles, absence seborrheic glands, infundibular cyst with keratin granules; 2y-retinal alteration, ...
Inheritance	Familial, autosomal recessive
Age/Examination	15y (15 years)
Age/Diagnosis	-
Age/Onset	01y
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-04-03 10:13:46 +02:00 (CEST)
Date last edited	2020-04-03 10:23:14 +02:00 (CEST)

Global Variome shared LOVD