Global Variome shared LOVD

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

Phenotype #0000117211 Individual ID 00144444 Associated disease SLS Phenotype details HP:0007503 (Generalized Ichthyosis); HP:0001264 (spastic diplegia, can not sit without support); HP:0001347 (Hyperreflexia); HP:0001249 (intellectual disability, profound, no speech at 9 years); HP:0000613 (photophobia); HP:0030507 (retinal crystals); HP:0001622 (premature birth, 36 weeks); HP:0001250 (seizures, severe, abnormal EEG); HP:0007266 (Cerebral dysmyelination, periventricular); HP:0000520 (proptosis); HP:0000508 (ptosis); HP:0000280 (coarse facies) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 09y (9 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Maximilian Weustenfeld Database submission license No license selected Created by Maximilian Weustenfeld Date created 2017-12-14 15:15:28 +01:00 (CET) Date last edited 2017-12-21 22:47:39 +01:00 (CET)

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