|
hemolytic anemia due to glucophosphate isomerase deficiency
|
13275 |
|
|
chromosome 16p13.3 duplication
|
13273 |
|
|
interstitial 16p13.3 duplication
|
13273 |
|
|
chromosome 16p13.3 duplication syndrome
|
13273 |
|
|
congenital hypotonia, epilepsy, developmental delay, and digital anomalies
|
32781 |
|
|
gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
|
32738 |
|
|
ALX1-related frontonasal dysplasia
|
13271 |
|
|
early infantile epileptic encephalopathy caused by mutation in SPTAN1
|
13277 |
|
|
macular corneal dystrophy, type II
|
C563270 |
|
|
developmental and epileptic encephalopathy, 5
|
13277 |
|
|
developmental and epileptic encephalopathy, 72
|
32710 |
|
|
malignant middle ear neoplasm
|
3275 |
|
|
malignant internal ear neoplasm
|
3278 |
|
|
developmental and epileptic encephalopathy, 74
|
32725 |
|
