617622.2.2

Saudi Arabia

Global developmental delay; Ptosis; Molar tooth sign on MRI; Superior cerebellar dysplasia; Thick corpus callosum; Apnea; Tachypnea

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_025139.6:c.1559C>T	2		Joubert Syndrome 30

Affected relative of the proband.

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
617622.2.1	Saudi Arabia	Global developmental delay; Retinal dystrophy; Abnormality of eye movement; Polydactyly; Ptosis; Wide nasal bridge; Thin upper lip vermilion; 2-3 toe syndactyly; Molar tooth sign on MRI; Superior cerebellar dysplasia	Female	Yes		Proband
617622.2.3	Saudi Arabia		Male			Healthy father of 617622.2.1