Global Variome shared LOVD

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Phenotype #0000290783 Individual ID 00397656 Associated disease - Phenotype details eye phenotype characteristic of Leber congenital amaurosis (5 months), mental retardation/psychomotor retardation, empty sella, hypoplasia of the optic chiasm, hypothalamic hypoplasia, (breathing, abnormality, pes planus) 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 2021-12-27 16:15:49 +01:00 (CET) Date last edited N/A

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