Global Variome shared LOVD

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Phenotype #0000060812 Individual ID 00081234 Associated disease SLS Phenotype details HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus); HP:0001622 (premature birth, 32 weeks); HP:0001250 (seizures, associated with hypocalcemia); HP:0001270 (motor delay); HP:0000750 (Delayed speech and language development); HP:0002510 (Spastic tetraplegia); HP:0001249 (intellectual disability); HP:0007266 (Cerebral dysmyelination); HP:0005750 (Contractures of the joints of the lower limbs); HP:0002015 (dysphagia); HP:0000498 (Blepharitis); no retinal abnormalities! Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 24y (24 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Maximilian Weustenfeld Database submission license No license selected Created by Maximilian Weustenfeld Date created 2016-09-26 12:18:26 +02:00 (CEST) Date last edited 2017-10-16 16:43:17 +02:00 (CEST)

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