Phenotype #0000072397

Individual ID 00094006
Associated disease SLS
Phenotype details HP:0007503 (Generalized Ichthyosis);
HP:0001263 (Global developmental delay);
HP:0001622 (premature birth, 34 weeks);
HP:0040187 (neonatal sepsis);
HP:0001250 (seizures);
HP:0000613 (photophobia);
HP:0001257 (spasticity, generalized, bed-bound since his 6th year of age);
HP:0007266 (Cerebral dysmyelination);
characteristic prominent MRS lipid peaks
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Maximilian Weustenfeld
Database submission license No license selected
Created by Maximilian Weustenfeld
Date created 2016-12-30 20:42:32 +01:00 (CET)
Date last edited 2017-10-19 10:34:29 +02:00 (CEST)

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