Phenotype #0000060809

Individual ID 00081231
Associated disease SLS
Phenotype details HP:0007503 (Generalized Ichthyosis, severe); HP:0001622 (premature birth, 34 weeks); HP:0001257 (Spasticity, more prominent in lower extremities); HP:0001249 (intellectual disability); HP:0002188 (Delayed CNS myelination, periventricular);
HP:0006801 (hyperactive deep tendon refl.)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 04y (4 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Maximilian Weustenfeld
Database submission license No license selected
Created by Maximilian Weustenfeld
Date created 2016-09-25 17:18:06 +02:00 (CEST)
Date last edited 2017-12-20 20:58:00 +01:00 (CET)

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