Phenotype #0000059293

Individual ID 00079569
Associated disease SLS
Phenotype details HP:0007503 (Generalized Ichthyosis);
HP:0000989 (Pruritus);
HP:0012758 (Neurodevelopmental delay); HP:0001258 (Spastic paraplegia); HP:0007702 (Pigmentary retinal deposits, "white glistening dots"); HP:0007266 (Cerebral dysmyelination)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 14y (14 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Maximilian Weustenfeld
Database submission license No license selected
Created by Maximilian Weustenfeld
Date created 2016-08-14 17:38:52 +02:00 (CEST)
Date last edited 2017-09-23 13:55:23 +02:00 (CEST)

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