Global Variome shared LOVD

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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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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)

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