Phenotype #0000060302

Individual ID 00080727
Associated disease SLS
Phenotype details HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, severe); HP:0001249 (intellectual disability, IQ 50); HP:0030507 (retinal crystals); HP:0001622 (premature birth, 28 weeks); HP:0002188 (Delayed CNS myelination)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 21y (21 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Maximilian Weustenfeld
Database submission license No license selected
Created by Maximilian Weustenfeld
Date created 2016-09-08 19:47:32 +02:00 (CEST)
Date last edited 2017-09-09 16:16:51 +02:00 (CEST)

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