Phenotype #0000310184
| Individual ID |
00418886 |
| Associated disease |
JBTS |
| Phenotype details |
28y: referred to the neurology department for evaluation of her impaired walking and standing; 8y: living-donor renal transplantation; visual acuity had gradually decreased from infancy, leading to complete blindness; ophthalmologic examination: no light perception in either eye; no blepharoptosis or coloboma; funduscopic examination: optic disc pallor; neurological examination: revealed truncal ataxia without apparent limb ataxia; deep tendon reflexes: normal in all extremities, no pathological reflexes; Wechsler Adult Intelligence Scale-III verbal IQ score: 75; axial brain magnetic resonance imaging: mildly thickened and elongated superior cerebellar peduncles, a deepened interpeduncular fossa, and vermian hypoplasia, resulting in the molar tooth sign |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
Joubert syndrome |
| Age/Examination |
- |
| 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 |
2022-10-10 15:49:37 +02:00 (CEST) |
| Date last edited |
N/A |
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