Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000415182 | SCV000328813 | likely pathogenic | Intellectual disability, X-linked syndromic, Turner type | 2015-08-24 | no assertion criteria provided | clinical testing | Our lab has reported dual molecular diagnoses of MED13L (NM_015335.4, c.4956-2A>C) and HUWE1 (NM_031407.5, c.3239G>A) for this individual with developmental delay, intellectual disability, and right club foot. New evidence suggests that haploinsufficiency of MED13L can cause intellectual disability, developmental delay, facial abnormalities, hypotonia, and autism. |