Phenotype #0000087163

Individual ID 00110535
Associated disease SLS
Phenotype details HP:0007503 (Generalized Ichthyosis); HP:0001264 (Spastic diplegia);
HP:0001263 (Global developmental delay, esp. motor function and language);
HP:0006801(hyperact. deep tendon refl.);
patient suffers also from AID deficiency!
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 06y (6 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Maximilian Weustenfeld
Database submission license No license selected
Created by Maximilian Weustenfeld
Date created 2017-07-30 16:47:42 +02:00 (CEST)
Date last edited 2017-12-21 15:54:40 +01:00 (CET)

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