Phenotype #0000305162
| Individual ID |
00413181 |
| Associated disease |
- |
| Phenotype details |
deciduous teeth: small, microdont, yellow, and almost devoid of enamel; X-ray: diminished enamel volume involving all erupted teeth due to posteruptive loss related to enamel hypomineralization and variable hypoplasia. Permanent teeth are taurodont, especially the upper first molar teeth, characterized by bulbous crowns, large pulp chambers, and thinner roots than expected. The deciduous molar teeth, which exhibit significant occlusal attrition, have pulp chambers that are largely radio-opaque, likely to represent dentine; ocular findings: early and progressive loss of visual acuity with worsening central vision followed by failure of peripheral vision; marked photophobia; marked impairment of color vision apparent early in life; electroretinography: early loss of cone and rod function, with cones being more severely affected |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
Jalili Syndrome |
| Age/Examination |
5y (5 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 |
2022-07-11 18:32:10 +02:00 (CEST) |
| Date last edited |
N/A |
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