Global Variome shared LOVD

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Phenotype #0000300857 Individual ID 00408738 Associated disease - Phenotype details molar tooth malformation: yes; cerebellar vermis aplasia/hypoplasia: yes; breathing abnormalities: not available; ataxia/hypotonia: yes; mental retardation: yes; oculomotor apraxia: yes; retinal involvement: Rod-cone dysfunction; supratentorial abnormalities: thin corpus collosum, frontal polymicrogyriafrontal polymicrogyria; no coloboma; kidney involvement: no 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 2022-04-26 20:47:02 +02:00 (CEST) Date last edited 2022-04-28 10:40:21 +02:00 (CEST)

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