Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Undiagnosed Diseases Program Translational Research Laboratory, |
RCV000754583 | SCV000809008 | likely pathogenic | Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair | 2018-09-24 | criteria provided, single submitter | research | |
OMIM | RCV000735840 | SCV000863992 | pathogenic | Trichohepatoneurodevelopmental syndrome | 2019-01-02 | no assertion criteria provided | literature only |