Phenotype #0000059616

Individual ID 00079920
Associated disease SLS
Phenotype details HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, moderate); HP:0001249 (intellectual disability, IQ 54); HP:0030507 (retinal crystals); HP:0000613 (photophobia); HP:0001622 (premature birth, 37,5 weeks); HP:0002188 (Delayed CNS myelination
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 18y (18 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Maximilian Weustenfeld
Database submission license No license selected
Created by Maximilian Weustenfeld
Date created 2016-08-27 18:33:35 +02:00 (CEST)
Date last edited N/A

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