Phenotype #0000290565

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00397431
Associated disease	-
Phenotype details	hypotonia/ataxia, psychomotor delay, intellectual disability, oculomotor apraxia, no nystagmus, retinitis pigmentosa, visus reduction, drusen in left eye, molar tooth sign on brain MRI, cortical cystsnephronophthisis / urine concentration defect
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Joubert syndrome
Age/Examination	15y (15 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2021-12-21 13:17:59 +01:00 (CET)
Date last edited	N/A

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