617752.2

Country

Saudi Arabia

HPO Terms

Intellectual disability; Delayed speech and language development; Autistic behavior; Hyperactivity; Motor delay; Sloping forehead; Prominent nasal bridge; Pointed chin; Large earlobe

Back to search Result

Sex

Male

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_004238.1:c.3446_3447del	1		Clark-Baraitser Syndrome

Download Table

Remarks

Variant is de novo

References

Zhang et al. 2017