| Individual ID |
00328831 |
| Associated disease |
neuropathy, optic |
| Phenotype details |
Neonatal respiratory distress (HP:0002643); Nasogastric tube feeding in infancy (HP:0011470); Horizontal nystagmus (HP:0000666); High hypermetropia (HP:0008499); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormality of visual evoked potentials (HP:0000649); Infantile axial hypotonia (HP:0009062); Limb hypertonia (HP:0002509); Ataxia (HP:0001251); Choreoathetosis (HP:0001266); Focal T2 hypointense basal ganglia lesion (HP:0012752); Focal hyperintensity of cerebral white matter on MRI (HP:0040328); Decreased thalamic volume (HP:0012695); Short stature (HP:0004322); Macrocephaly (HP:0000256); High palate (HP:0000218); Wide intermamillary distance (HP:0006610); Reduced tendon reflexes (HP:0001315); Oral-pharyngeal dysphagia (HP:0200136); Lactic acidosis (HP:0003128); Elevated lactate:pyruvate ratio (HP:0032653); Developmental regression (HP:0002376); Increased size of nasopharyngeal adenoids (HP:0040261); Bilateral tonic-clonic seizure (HP:0002069); Focal-onset seizure (HP:0007359); Interictal epileptiform activity (HP:0011182); EEG with generalized slow activity (HP:0010845); |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
04y (4 years) |
| Age/Diagnosis |
- |
| Age/Onset |
00y03m |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Aude Rocatcher |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Aude Rocatcher |
| Date created |
2021-02-01 11:36:30 +01:00 (CET) |
| Date last edited |
2021-02-04 10:47:43 +01:00 (CET) |
