Phenotype #0000310168
| Individual ID |
00418870 |
| Associated disease |
JBTS |
| Phenotype details |
born after normal pregnancies at term with normal birth weights and Apgar score; 1y9m: presented with unusual eye movements and central hypotonia; psychological assessment: functioning at a 14-month level according to the Bayley Scales of Infant Development; receptive and expressive language skills appropriate for 14-16 months of age; gross motor development: appropriate for 10 months of age; examination of both eyes: normal; same eye movement disorder as seen in the brother; 2y5m: examined by an ophthalmologist diagnosed with ocular motor apraxia without strabismus; used head thrusts to overcome impaired horizontal eye movements; able to fix and follow with each eye binocularly; attempting to fixate on a near object, he would head thrust to either side; fundus examination findings: normal; head circumference: 50th centile, height: 90th centile, and weight: +4 SD; wide-based gait to compensate for severe hypotonia; head CT scan and electroencephalogram: normal; able to say about 20 words, but unable to form simple 3-word sentences; presented at age 11 years with renal failure caused by juvenile nephronophthisis and subsequently underwent renal transplantation; elevated plasma creatinine, but no renal symptoms the previous year; full-field electroretinograms 13y: panretinal dysfunction affecting cone-driven responses, photopic b-wave amplitude reductions less pronounced, scotopic responses: normal; confirmed 2 years later; no complaints of nyctalopia or photophobia; Ishihara colour plate testing: normal; magnetic resonance imaging of the brain in adulthood: molar tooth deformity (cerebellar vermis hypoplasia and thinned superior cerebellar peduncles) in keeping with Joubert syndrome |
| 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 11:03:16 +02:00 (CEST) |
| Date last edited |
N/A |
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