Phenotype #0000143245

Individual ID 00180978
Associated disease SLS
Phenotype details HP:0007503 (Gen. Ichth.);
HP:0002510 (Spastic quadriplegia/tetraplegia, able to walk);
HP:0001249 (intellectual disability);
HP:0007266 (Cerebral dysmyelination, periventricular, bilaterally symmetrical);
HP:0030506 (yellow/white lesions of the retina)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 24y (24 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Maximilian Weustenfeld
Database submission license No license selected
Created by Maximilian Weustenfeld
Date created 2018-09-19 14:23:51 +02:00 (CEST)
Date last edited N/A

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