Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000068419 Individual ID 00089015 Associated disease SLS Phenotype details HP:0007503 (Generalized Ichthyosis); HP:0001249 (intellectual disability); HP:0002510 (Spastic tetraplegia); HP:0030507 (retinal crystals, "white dots"); HP:0001250 (seizures); HP:0002751 (kyphoscoliosis); HP:0000316 (hypertelorism); HP:0001622 (premature birth, 36 weeks) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 03y06m (3 years, 6 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Maximilian Weustenfeld Database submission license No license selected Created by Maximilian Weustenfeld Date created 2016-11-27 13:51:55 +01:00 (CET) Date last edited N/A

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