Global Variome shared LOVD

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

Phenotype #0000141997 Individual ID 00179512 Associated disease SLS Phenotype details HP:0007503 (Gen. Ichthyosis); HP:0002510 (Spastic quadriplegia/tetraplegia); HP:0012758 (neurodevelopmental delay); HP:0011400 (abnormal CNS myelination, periventricular, subcortical); HP:0001622 (pre. birth, 34 weeks) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 04y (4 years) Age/Diagnosis 02y Age/Onset - Phenotype/Onset - Protein - Owner name Maximilian Weustenfeld Database submission license No license selected Created by Maximilian Weustenfeld Date created 2018-08-23 14:54:43 +02:00 (CEST) Date last edited N/A

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