ClinVar Miner

List of intergenic variants reported as pathogenic for Epiblepharon of lower lid; Global developmental delay; Visual impairment; Feeding difficulties; Brachycephaly; Short lingual frenulum; Microcephaly; Intellectual disability; Downturned corners of mouth; Acromesomelia; Supraventricular tachycardia; Retinal dysplasia; Complete duplication of thumb phalanx; Midface retrusion; Recurrent hand flapping; Muscular hypotonia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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