122470.1

Country

Saudi Arabia

HPO Terms

Intrauterine growth retardation; Global developmental delay; Abnormal shape of the frontal region; Microcephaly; Long eyelashes; Downslanted palpebral fissures; Abnormality of the palmar creases; Elbow flexion contracture; Brachydactyly; Syndactyly

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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_133433.4:c.5464G>C	1	NA	Cornelia de Lange Syndrome 1

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References

Maddirevula et al. 2018