Phenotype #0000305197
| Individual ID |
00413216 |
| Associated disease |
- |
| Phenotype details |
best corrected visual acuity: 20/200; hypermetropia of 5-6 diopters with cycloplegic refraction; no night blindness; outdoor photophobia, no indoor photophobia; fundus: normal; optical coherence tomography: clear thinning of the outer nuclear layer and the fovea; multifocal electroretinogram: scotopic, mesopic, photopic, and oscillatory potentials and 30-Hz flicker electroretinography responses: cone cells did not respond, rod cells showed an impaired response; intraocular pressure: ~10-15 mmHg; dental examination: enamel hypoplasia, amelogenesis imperfecta - yellow-brown discoloration of the teeth, a rough dentin surface, and diastema of the teeth, hypomineralized type, pulp chamber and root: normal in size; mixed dentition and mildly affected teeth; 11, 21, 16, 26, 31, 36, 41, and 46 at the stage of eruption, 21 and 41 - hypomineralized regions; radiographic examination: deciduous tooth germs were present in the maxilla and mandible |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
Jalili Syndrome |
| Age/Examination |
8y (8 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-07-12 13:17:42 +02:00 (CEST) |
| Date last edited |
N/A |
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