Phenotype #0000246663

Individual ID	00328347
Associated disease	neuropathy, optic
Phenotype details	Poor visual behavior for age (HP:0025152); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Global developmental delay (HP:0001263); Intellectual disability, severe (HP:0010864); Increased serum pyruvate (HP:0003542); Lactic acidosis (HP:0003128); Spastic tetraparesis (HP:0001285); Arm dystonia (HP:0031960); Sensory axonal neuropathy (HP:0003390); Generalized-onset seizure (HP:0002197); EEG abnormality (HP:0002353); Abnormal auditory evoked potentials (HP:0006958); Abnormality of visual evoked potentials (HP:0000649); Abnormal thalamic MRI signal intensity (HP:0012696); Abnormal brainstem MRI signal intensity (HP:0012747)
Diagnosis/Initial	-
Diagnosis/Definite	-
Inheritance	Familial, autosomal recessive
Age/Examination	<10y (before 10 years)
Age/Diagnosis	-
Age/Onset	<01y
Phenotype/Onset	-
Protein	-
Owner name	Aude Rocatcher
Database submission license
Created by	Aude Rocatcher
Date created	2021-01-27 14:39:33 +01:00 (CET)
Date last edited	2021-01-27 19:08:38 +01:00 (CET)

Global Variome shared LOVD