Phenotype #0000087082

Individual ID 00110426
Associated disease SLS
Phenotype details HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0001257 (Spasticity, incipient, lower limbs);
HP:0000256 (Macrocephaly);
HP:0001263 (Global developmental delay, mild, psychomotor retardation); HP:0001622 (premature birth, 33 weeks);
HP:0008936 (axial hypotonia)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 00y06m (6 months)
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 10:48:04 +02:00 (CEST)
Date last edited 2017-12-21 15:26:57 +01:00 (CET)

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