Global Variome shared LOVD

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Phenotype #0000143341 Individual ID 00181091 Associated disease SLS Phenotype details HP:0007503 (Gen. Ichth.); HP:0001258 (Spastic paraplegia); HP:0000164 (Abnormality of the dentition); HP:0007266 (Cerebral dysmyelination, periventricular); HP:0001263 (Global developmental delay); HP:0001347 (Hyperreflexia) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 04y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Maximilian Weustenfeld Database submission license No license selected Created by Maximilian Weustenfeld Date created 2018-09-25 11:59:25 +02:00 (CEST) Date last edited 2018-09-27 21:47:07 +02:00 (CEST)

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