|
pyruvate metabolism disorder
|
16789 |
|
|
autism spectrum disorders
|
D000067877 |
|
|
autistic spectrum disorders
|
D000067877 |
|
|
MYT1L autosomal dominant non-syndromic intellectual disability
|
14678 |
|
|
46,xy gonadal dysgenesis, complete or partial, with 9p24.3 deletion
|
C567887 |
|
|
retinal cone dystrophy 3b
|
C563678 |
|
|
emery-dreifuss muscular dystrophy 4
|
C567831 |
|
|
emery-dreifuss muscular dystrophy 4, autosomal dominant
|
C567831 |
|
|
emery-dreifuss muscular dystrophy 5
|
C567830 |
|
|
KCNV2-Related cone dystrophy with night blindness and supernormal rod responses
|
C563678 |
|
|
congenital muscular dystrophy, Fukuyama type
|
9678 |
|
|
epileptic encephalopathy, early infantile, 71
|
32678 |
|
|
lymphoproliferative syndrome, ebv-associated, autosomal, 1
|
C567815 |
|
