Global Variome shared LOVD

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

Phenotype #0000085789 Individual ID 00108195 Associated disease SLS Phenotype details HP:0007503 (Generalized Ichthyosis,); HP:0001264 (Spastic diplegia); HP:0011400 (abnormal CNS myelination, periventricular); HP:0001270 (Motor delay); HP:0002099 (Asthma); HP:0002090 (Pneumonia,2 episodes in 1st year of life) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 02y (2 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Maximilian Weustenfeld Database submission license No license selected Created by Maximilian Weustenfeld Date created 2017-07-23 19:13:19 +02:00 (CEST) Date last edited 2017-07-23 19:30:00 +02:00 (CEST)

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