Phenotype #0000141906

Individual ID 00179420
Associated disease SLS
Phenotype details HP:0007503 (Gen. Ichthyosis, neck, trunk, extremities);
HP:0001263 (Global developmental delay, early, particularly speech, language and motor milestones);
HP:0001264 (Spastic diplegia, unable to stand and sit at time of examination, age unknown but probably very young child)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination <01y? (before approximately 1 year)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Maximilian Weustenfeld
Database submission license No license selected
Created by Maximilian Weustenfeld
Date created 2018-08-21 11:46:29 +02:00 (CEST)
Date last edited 2018-09-25 10:48:41 +02:00 (CEST)

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