Phenotype #0000300884

Individual ID 00408769
Associated disease JBTS
Phenotype details hypotonia/ataxia, developmental delay, mental retardation; oculomotor apraxia; breathing abnormality; other abnormalities: seizures; ocular signs: Leber congenital amaurosis, nystagmus; no renal abnormalities; no liver abnormalities ; no polydactyly; no cleft lip/palate; cerebellar vermis hypoplasia/molar tooth sign; no polymicrogyria
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Joubert syndrome
Age/Examination 1y6m (1 year, 6 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-04-27 13:11:01 +02:00 (CEST)
Date last edited N/A

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