Phenotype #0000089038

Individual ID 00113556
Associated disease SLS
Phenotype details HP:0007503 (Generalized Ichthyosis); HP:0001249 (intellectual disability); HP:0002313(Spastic paraparesis); HP:0007024 (Pseudobulbar palsy/dysarthria); HP:0007266 (cerebral dysmyelination, periventricular);
HP:0008936 (axial hypotonia); characteristic MRS lipid peak
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 05y (5 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 10:36:27 +02:00 (CEST)
Date last edited 2017-12-21 16:04:34 +01:00 (CET)

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