Phenotype #0000068426

Individual ID 00089024
Associated disease SLS
Phenotype details HP:0007503 (Generalized Ichthyosis); HP:0001257 (Spasticity); HP:0001249 (intellectual disability); HP:0030507 (retinal crystals); HP:0000613 (photophobia); HP:0007663 (reduced visual acuity, 20/25 OU); HP:0000509 (conjunctivitis, and blepharitis)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 26y (26 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Maximilian Weustenfeld
Database submission license No license selected
Created by Maximilian Weustenfeld
Date created 2016-11-27 20:51:40 +01:00 (CET)
Date last edited N/A

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