Global Variome shared LOVD

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

Phenotype #0000089040 Individual ID 00113558 Associated disease SLS Phenotype details HP:0007503 (Generalized Ichthyosis); HP:0001264 (Spastic diplegia); HP:0000989 (Pruritus); HP:0001622 (premature birth, 34 weeks); HP:0001249 (intellectual disability); HP:0000613 (photophobia); HP:0007305 (CNS demyelination, periventricular, genu and selenium of corpus callosum); HP:0000486 (strabismus); HP:0031064 (impaired continence); HP:0007663 (reduced visual acuity); HP:0001347(hyperrefelxia); high lipid peak in MRS Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 07y (7 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Maximilian Weustenfeld Database submission license No license selected Created by Maximilian Weustenfeld Date created 2017-08-06 14:45:38 +02:00 (CEST) Date last edited 2017-12-21 16:12:38 +01:00 (CET)

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