Phenotype #0000170748
| Individual ID |
00225645 |
| Associated disease |
- |
| Phenotype details |
Blindness (HP:0000618); Optic atrophy (HP:0000648); Horizontal nystagmus (HP:0000666); Asthma(HP:0002099); Optic disc pallor (HP:0000543); Abnormality of color vision (HP:0000551); Cystic spaces in the inner nuclear layer in OCT |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
Variants in the ACO2 gene |
| Age/Examination |
- |
| Age/Diagnosis |
05y |
| Age/Onset |
02y |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Thomas Foulonneau |
| Database submission license |
No license selected |
| Created by |
Thomas Foulonneau |
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