Phenotype #0000060837

Individual ID 00081259
Associated disease SLS
Phenotype details HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0001264 (Spastic diplegia, severe, wheelchair bound); Motor disability in arms (mild);
HP:0005656 (Positional foot deformity, severe); HP:0001249 (intellectual disability, with moderate speech disorder); HP:0001250 (seizures); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 43y (43 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Maximilian Weustenfeld
Database submission license No license selected
Created by Maximilian Weustenfeld
Date created 2016-09-27 17:03:57 +02:00 (CEST)
Date last edited N/A

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