Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Groupe Hospitalier Pitie Salpetriere, |
RCV000496121 | SCV000586785 | pathogenic | KBG syndrome | 2017-01-06 | criteria provided, single submitter | clinical testing | Intellectual disability, mild; short stature; hypermetropia; dysmorphism; short digits; cyphoscoliosis; carpus bones fusion in the daughter; father affected |