Phenotype #0000060861

Individual ID 00081286
Associated disease SLS
Phenotype details HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus); HP:0001249 (intellectual disability, moderate); HP:0002385 (paraparesis, ambulatory with support); HP:0006801 (Hyperactive deep tendon reflexes); HP:0001276 (Hypertonia); HP:0000613 (photophobia); HP:0007663 (Reduced visual acuity); HP:0000821 (Hypothyroidism)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 30y (30 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Maximilian Weustenfeld
Database submission license No license selected
Created by Maximilian Weustenfeld
Date created 2016-09-29 11:21:51 +02:00 (CEST)
Date last edited N/A

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