614424.1

United Arab Emirates

Molar tooth sign on MRI; Hypotonia; Intellectual disability

Unknown

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001044385.3:c.977_978del	2	NA	Joubert Syndrome 14

Patient from 'MTI_131' family in the publication

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
614424.2	United Arab Emirates	Global developmental delay; Seizure; Ataxia; Strabismus; Hypotonia; Abnormal facial shape	Female	Yes	Yes	Younger brother had renal cysts and seizure disorder