611560.1

Saudi Arabia

Global developmental delay; Generalized hypotonia; Strabismus; Oculomotor apraxia; Intellectual disability; Ataxia

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_015272.5:c.1649A>G	2		Joubert Syndrome 7

Has 2 other similarly affected siblings