Phenotype #0000060813

Individual ID 00081235
Associated disease SLS
Phenotype details HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus); HP:0009237 (Short 5th finger, bilaterally); HP:0001264 (Spastic diplegia); HP:0008936 (Muscular hypotonia of the trunk, problems with sitting); HP:0001250 (seizures); HP:0001622 (premature birth, 36 weeks); no ocular or visual abnormalities!
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 01y07m (1 year, 7 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Maximilian Weustenfeld
Database submission license No license selected
Created by Maximilian Weustenfeld
Date created 2016-09-26 13:17:54 +02:00 (CEST)
Date last edited N/A

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