Phenotype #0000312632
| Individual ID |
00421393 |
| Associated disease |
- |
| Phenotype details |
light sensitivity and multiple congenital anomalies; best corrected visual acuity: 2.4cy/cm by Teller acuity cards (approximately 20/360 Snellen equivalent); cycloplegic refraction: myopia with astigmatism in both eyes: -3.25 + 2.25 x 090 and - 3.25 + 2.50 x 095; anterior segment exam: unremarkable; fundus exam: diffuse granular pigment changes and bull's eye maculopathy, with typical corresponding bull's eye pattern on fundus autofluorescence; optical coherence tomography: loss of the ellipsoid zone at the fovea; dental exam: crowns on multiple molar teeth and yellow/opaque appearance of the anterior teeth with thinning and complete absence of enamel on some teeth; systemic evaluation notable for spastic paraplegia, developmental delay, and fatty liver; the patient dependent on tracheostomy for respiration and gastrostomy tube for feeding |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
Jalili Syndrome |
| Age/Examination |
3y (3 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 |
2022-11-04 13:33:06 +01:00 (CET) |
| Date last edited |
N/A |
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