Phenotype #0000060854

Individual ID 00081279
Associated disease SLS
Phenotype details HP:0007503 (Generalized Ichthyosis); HP:0002510 (Spastic tetraplegia); HP:0001622 (premature birth, 34 weeks);
HP:0001249 (intellectual disability); HP:0001250 (seizures); HP:0030507 (retinal crystals);HP:0007266 (Cerebral dysmyelination, periventricular)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 02y (2 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Maximilian Weustenfeld
Database submission license No license selected
Created by Maximilian Weustenfeld
Date created 2016-09-28 19:00:22 +02:00 (CEST)
Date last edited 2017-10-16 21:31:49 +02:00 (CEST)

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