Phenotype #0000301083
| Individual ID |
00408965 |
| Associated disease |
JBTS |
| Phenotype details |
neurological examination: hypotonia, global developmental delay, oculomotor apraxia, bilateral horizontal nystagmus, poor head control and tachypnea improved with age; poor emotional status up to age 7m; unaided sitting 14m with rehabilitation therapy; growth milestones relative delay at 1y; brain magnetic resonance:thickened and elongated superior cerebellar peduncles, deepened interpeduncular fossa and cerebellar vermis aplasia, all resulting in the molar tooth sign appearance and a slightly dilated fourth ventricle; characteristic physical features: frontal bossing, bitemporal narrowing and nasal bridge depression, high arched eyebrows, open mouth, tongue protrusion, profuse salivation and clinodactyly of the fifth finger; no retinal involvement or low vision; abdominal ultrasound and laboratory results, urinary findings, blood urea and creatinine: normal |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
Joubert syndrome |
| Age/Examination |
1y5m (1 year, 5 months) |
| 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 |
2022-04-29 10:47:09 +02:00 (CEST) |
| Date last edited |
N/A |
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