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GENATLAS PHENOTYPE

last update : 27-11-2024

Symbol	JBTS41
Location	9p21.1
Name	Joubert syndrome 41
Corresponding gene	TOPORS
Main clinical features	hypotonia, developmental delay, and a distinct cerebellar malformation hypoplasia of the cerebellar vermis with the characteristic neuroradiologic 'molar tooth sign,' and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay other variable features include retinal dystrophy and renal anomalies
Genetic determination	autosomal recessive
Related entries	also cases mimicking orofaciodigital syndrome
Function/system disorder	eye
	kidney and urinary tract
	neurology
	mental retardation
Type	disease

Remark(s)