213300.2

Oman; United Arab Emirates

Ataxia; Global developmental delay; Intellectual disability; Oculomotor apraxia; Dyspnea; Molar tooth sign on MRI

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_019892.6:c.1543C>T	2		Joubert Syndrome 1

Emirati patient of Omani origin from 'MTI-134' family in the publication

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
213300.1	Oman; United Arab Emirates	Retinal dystrophy ; Molar tooth sign on MRI ; Renal cyst ; Hepatic fibrosis	Unknown		Yes	Emirati patient of Omani origin from 'MTI-498' family in the publication