|
ORC1 Meier-Gorlin syndrome
|
9143 |
|
|
intellectual disability, tall stature, obesity, macrocephaly and typical facial features
|
30914 |
|
|
mental retardation, tall stature, obesity, macrocephaly and typical facial features
|
30914 |
|
|
1q21.1 microdeletion syndrome
|
12914 |
|
|
autosomal recessive thrombophilia due to PC deficiency
|
19145 |
|
|
autosomal recessive thrombophilia due to congenital protein C deficiency
|
19145 |
|
|
severe hereditary thrombophilia due to congenital protein C deficiency
|
19145 |
|
|
autosomal recessive thrombophilia due to congenital protein S deficiency
|
19144 |
|
|
severe hereditary thrombophilia due to congenital protein S deficiency
|
19144 |
|
|
carnitine palmitoyl transferase II deficiency, severe infantile form
|
10914 |
|
|
Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form
|
10914 |
|
|
Carnitine palmitoyl transferase deficiency type 2, severe infantile form
|
10914 |
|
|
Wolman's or triglyceride storage type III disease
|
19148 |
|
