Phenotype #0000117206

Individual ID 00144438
Associated disease SLS
Phenotype details HP:0007503 (Generalized Ichthyosis, face, neck, palms, soles, trunk and back);
HP:0001258 (spastic paraplegia);
HP:0001347 (Hyperreflexia);
HP:0000613 (photophobia);
HP:0001250 (seizures);
HP:0001249 (intellectual disability, moderate);
HP:0000252 (microcephaly);
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 2017-12-13 22:36:32 +01:00 (CET)
Date last edited 2017-12-21 22:48:07 +01:00 (CET)

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