Global Variome shared LOVD

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

Phenotype #0000060816 Individual ID 00081238 Associated disease SLS Phenotype details HP:0007503 (generalized ichthyosis); "neurologic symptoms typical of SLS"; HP:0001264 (spastic diplegia); HP:0001249 (intellectual disability, severe); more phenotype data available: PMID 1836061 Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 32y (32 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 19:45:44 +02:00 (CEST) Date last edited 2018-06-20 15:18:17 +02:00 (CEST)

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