Phenotype #0000129471

Individual ID 00164368
Associated disease SLS
Phenotype details HP:0002313 (spastic paraparesis, wheelchair);
HP:0006801 (hyperactive deep tendon Reflexes);
HP:0007503 (Gen. Ichthyosis);
HP:0001249 (intell. dis.);
HP:0000767 (pectus excavatum);
HP:0002751 (kyphoscoliosis);
HP:0011400 (abn. CNS myelin.)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 16y (16 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Maximilian Weustenfeld
Database submission license No license selected
Created by Maximilian Weustenfeld
Date created 2018-05-16 16:01:08 +02:00 (CEST)
Date last edited N/A

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