Phenotype #0000117370

Individual ID 00144633
Associated disease SLS
Phenotype details HP:0007503 (Generalized Ichthyosis);
HP:0001264 (spastic diplegia, Babinsky positive);
HP:0007266 (Cerebral dysmyelination, frontal lobes, centrum semiovale, post.parietal lobes, corpus callosum);
HP:0010605 (recurrent chalazia);
HP:0001347 (Hyperreflexia);
MRS increased lipid and myoinositol levels
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 03y (3 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Maximilian Weustenfeld
Database submission license No license selected
Created by Maximilian Weustenfeld
Date created 2017-12-18 20:33:59 +01:00 (CET)
Date last edited 2017-12-20 17:42:36 +01:00 (CET)

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