Phenotype #0000235509

Individual ID	00310204
Associated disease	neuropathy, optic
Phenotype details	Vomiting (HP:0002013); Muscular hypotonia (HP:0001252); Fluctuations in consciousness (HP:0007159); Esodeviation (HP:0020045); Nystagmus (HP:0000639); Optic atrophy (HP:0000648); Visual field defect (HP:0001123); Visual impairment (HP:0000505); Elevated serum creatine kinase (HP:0003236); EMG: myopathic abnormalities (HP:0003458); Hypoplasia of the corpus callosum (HP:0002079); Decreased activity of mitochondrial complex IV (HP:0008347); Intellectual disability, moderate (HP:0002342); Abnormality of visual evoked potentials (HP:0000649); Stroke-like episode (HP:0002401); Motor delay (HP:0001270); Global developmental delay (HP:0001263); Hemiparesis (HP:0001269)
Diagnosis/Initial	-
Diagnosis/Definite	-
Inheritance	Isolated (sporadic)
Age/Examination	17y (17 years)
Age/Diagnosis	-
Age/Onset	00y06m
Phenotype/Onset	-
Protein	-
Owner name	Benjamin Billiet
Database submission license	No license selected
Created by	Benjamin Billiet
Date created	2020-09-09 15:49:16 +02:00 (CEST)
Date last edited	2021-05-05 16:34:12 +02:00 (CEST)

Global Variome shared LOVD