|
neuronal intranuclear hyaline inclusion disease
|
11327 |
|
|
hemolytic anemia due to glucophosphate isomerase deficiency
|
13275 |
|
|
chromosome 16p13.3 duplication
|
13273 |
|
|
interstitial 16p13.3 duplication
|
13273 |
|
|
chromosome 16p13.3 duplication syndrome
|
13273 |
|
|
early infantile epileptic encephalopathy caused by mutation in SPTAN1
|
13277 |
|
|
developmental and epileptic encephalopathy, 5
|
13277 |
|
|
neuronal intranuclear inclusion disease
|
11327 |
|
|
SPTAN1 early infantile epileptic encephalopathy
|
13277 |
|
|
primary biliary cirrhosis and systemic scleroderma
|
13276 |
|
|
primary biliary cirrhosis, Scleroderma, Raynaud disease, and telangiectasia
|
13276 |
|
|
glucosephosphate isomerase deficiency
|
13275 |
|
|
ALX1-related frontonasal dysplasia
|
13271 |
|
|
hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency
|
13275 |
|
