607091 Ehlers-Danlos syndrome, progeroid form, 130070 Hypercholanemia, familial, 607748 Maple syrup urine disease, type Ia, 248600 Maple syrup urine disease, type Ib, 248600 Hyperbiliverdinemia
[slidedoc.us]
We suggest to test for DK1-CDG in patients with dilated cardiomyopathy.
[paperity.org]
arrhythmias, and neurodegeneration, OMIM:616878 Tags Green Green List (high evidence) TCAP 1 review 1 green BIALLELIC, autosomal or pseudoautosomal Sources Expert Review
[panelapp.genomicsengland.co.uk]