610443.1

Lebanon

Everted lower lip vermilion; Ptosis; Intellectual disability; Hypotonia; Motor delay; Joint hypermobility; Expressive language delay; Short stature

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001193466.2:c.808_809delCT	1		Koolen-De Vries Syndrome