300882.2

Country

Lebanon

HPO Terms

Microcephaly; Low-set ears; Short neck; Downslanted palpebral fissures; Single transverse palmar crease; Intellectual disability; Hypotonia; Motor delay; Failure to thrive; Intrauterine growth retardation; Flexion contracture of finger

Back to search Result

Sex

Male

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_018486.3:c.958G>A	1		Cornelia de Lange Syndrome 5

Download Table

Remarks

Parents from same village

References

Nair et al. 2018