Global Variome shared LOVD

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Phenotype #0000060869 Individual ID 00081297 Associated disease SLS Phenotype details HP:0007503 (Generalized Ichthyosis, Extremities: moderate, Trunk: mild, Face: mild); HP:0002313 (Spastic paraparesis, moderate, moderate gait abnormality); HP:0005750 (Contractures of the joints of the lower limbs, moderate) HP:0001249 (intellectual disability, mild); HP:0001260 (Dysarthria, mild); HP:0007663 (Reduced visual acuity, left: 6/36); HP:0030507 (retinal crystals, severe); HP:0000551 (Abnormality of color vision, moderate); HP:0007266 (Cerebral dysmyelination, moderate, frontal, occipital and periventricular); H-MRS lipid peak at 1.3 ppm (Lipid/Creatine-Ratio: 0.5) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 36y (36 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Maximilian Weustenfeld Database submission license No license selected Created by Maximilian Weustenfeld Date created 2016-09-29 14:29:10 +02:00 (CEST) Date last edited 2017-10-16 21:47:02 +02:00 (CEST)

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