|
nijmegen breakage syndrome-like disorder
|
C567767 |
|
|
mitochondrial HMG-CoA synthase deficiency
|
C567784 |
|
|
neurodegeneration due to cerebral folate transport deficiency
|
C567791 |
|
|
congenital, due to integrin alpha-7 deficiency muscular dystrophy
|
C567709 |
|
|
congenital, due to integrin alpha-7 deficiency myopathy
|
C567709 |
|
|
selective, 6 tooth agenesis
|
C567755 |
|
|
autosomal dominant, tubb1-related macrothrombocytopenia
|
C567747 |
|
|
congenital stationary, type 1c night blindness
|
C567704 |
|
|
bartter syndrome, type 4b
|
C567762 |
|
|
hereditary sensory, type IIA neuropathy
|
C567738 |
|
|
marie unna type, 1 hypotrichosis
|
C567718 |
|
|
hypotrichosis, marie unna type, 1
|
C567718 |
|
|
gastrointestinal, and urinary abnormalities cutis laxa with severe pulmonary
|
C567716 |
|
|
robin sequence with cleft mandible and limb anomalies
|
C535677 |
|
|
mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay myopathy
|
C567769 |
|
