[…] ability to walk Delayed speech and language development Global developmental delay Mild global developmental delay Ear malformation Hearing impairment Low-set, posteriorly
[ncbi.nlm.nih.gov]
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]