610188.3.1

Palestine

Oculomotor apraxia; Neonatal hypotonia; Ataxia; Motor delay; Renal cortical cysts; Molar tooth sign on MRI; Death in infancy

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_025114.4:c.5824C>T	2		Joubert Syndrome 5

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
610188.3.2	Palestine	Oculomotor apraxia; Neonatal hypotonia; Ataxia; Motor delay; Cleft palate; Molar tooth sign on MRI; Death in infancy	Male	Yes	Yes	Sibling of 610188.3.1