213300.3.2

Saudi Arabia

Molar tooth sign on MRI; Thin corpus callosum; Postaxial polydactyly; Hyperechogenic kidneys; Global developmental delay

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_017990.5:c.1360G>T	2		Joubert Syndrome 1

Brother of 213300.3.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
213300.3.1	Saudi Arabia	Lateral ventricle dilatation; Ventriculomegaly; Hypoplasia of the corpus callosum; Global developmental delay	Male	Yes	Yes