Phenotype #0000060867

Individual ID	00081295
Associated disease	SLS
Phenotype details	HP:0007503 (Generalized Ichthyosis, Extremities: moderate, Trunk: severe Face: mild); HP:0002313 (Spastic paraparesis, severe, marked gait disturbance, wheelchair); HP:0005750 (Contractures of the joints of the lower limbs, moderate) HP:0001249 (intellectual disability, mild); HP:0001260 (Dysarthria, mild); HP:0007663 (Reduced visual acuity, right: 6/18, left: 6/24); HP:0030507 (retinal crystals); HP:0000551 (Abnormality of color vision, mild); HP:0007266 (Cerebral dysmyelination, severe, frontal, parietal, temporal, occipital and periventricular); H-MRS lipid peak at 1.3 ppm (Lipid/Creatine-Ratio: 0.7)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	33y (33 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Maximilian Weustenfeld
Database submission license	No license selected
Created by	Maximilian Weustenfeld
Date created	2016-09-29 14:15:45 +02:00 (CEST)
Date last edited	2017-10-16 21:45:19 +02:00 (CEST)

Global Variome shared LOVD