Phenotype #0000060808

Individual ID 00081230
Associated disease SLS
Phenotype details HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus); HP:0001257 (Spasticity); HP:0002510 (spastic tetraplegia); HP:0001249 (intellectual disability);HP:0007305 (CNS demyelination, periventricular); HP:0030507 (retinal crystals);
HP:0006801 (hyperact. deep tendon refl.)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 20y (20 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Maximilian Weustenfeld
Database submission license No license selected
Created by Maximilian Weustenfeld
Date created 2016-09-25 16:34:03 +02:00 (CEST)
Date last edited 2018-08-22 09:58:04 +02:00 (CEST)

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