Phenotype #0000301084
| Individual ID |
00408966 |
| Associated disease |
JBTS |
| Phenotype details |
delayed motor and cognitive milestones; neonatal episodic hyperpnea and hypotonia in early childhood; neurological examination: inability to initiate voluntary saccades in a head-fixed position, while saccades can be initiated by the vestibulo-ocular reflex, which is suggestive of oculomotor apraxia and truncal ataxia. Brain magnetic resonance imaging: cerebellar vermis hypoplasia, mesencephalon, and superior cerebellar peduncles - typical molar tooth sign; 15y psychiatric symptoms: repetitive questions, extreme anxiety and anger when not answered, worrying about getting sick; .evaluation: moderate intellectual disability and obsessive-compulsive disorder; retinal examination and abdominal ultrasonography: normal (retinal dystrophy, ocular coloboma, cystic renal disease, and hepatic fibrosis were excluded) |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
Joubert syndrome |
| Age/Examination |
17y (17 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 |
2022-04-29 13:57:35 +02:00 (CEST) |
| Date last edited |
N/A |
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