Patients | Phenotypes |
---|---|
*Case report in Zeller et al.29 | |
Transient ND | |
C | Mitral valve insufficiency, thyroid insufficiency, β thalassaemia |
E* | Aortic arch defect, multiple epiphyseal dysplasia, high blood pressure |
J | Multiple epiphyseal dysplasia |
K | Left kidney agenesis, brain atrophy |
Permanent ND | |
D | Lung dysplasia, high blood pressure |
G | Hypogonadism |
I3* | Thyroid agenesis, pancreas dysplasia, hepatic failure, kidney failure, high blood pressure |
I4* | Thyroid hypoplasia, pancreas dysplasia, multiple epiphyseal dysplasia, hepatic failure, kidney failure |