Phenotype #0000059613

Individual ID 00079917
Associated disease SLS
Phenotype details HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, severe); HP:0001249 (intellectual disability, severe); HP:0030507 (retinal crystals); HP:0000613 (photophobia); HP:0001622 (premature birth, 36 weeks); HP:0002188 (Delayed CNS myelination)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 09y (9 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 17:18:23 +02:00 (CEST)
Date last edited N/A

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