Phenotype #0000300883

Individual ID	00408768
Associated disease	JBTS
Phenotype details	hypotonia/ataxia, developmental delay, mental retardation; oculomotor apraxia; breathing abnormality; other abnormalities: none; ocular signs: Leber congenital amaurosis; no renal abnormalities; no liver abnormalities ; no polydactyly; no cleft lip/palate; macrocephaly; cerebellar vermis hypoplasia/molar tooth sign; no polymicrogyria; corpus callosum abnormality and frontal atrophy
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Joubert syndrome
Age/Examination	2y (2 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-04-27 13:11:01 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD