Phenotype #0000089039

Individual ID 00113557
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:0003083 (dislocated radial head, bilateral); characteristic MRS lipid peak
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 19y (19 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 10:56:40 +02:00 (CEST)
Date last edited N/A

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