|
SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS
|
32703 |
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27
|
32706 |
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE
|
32728 |
|
|
HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE
|
32796 |
|
|
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9
|
32742 |
|
|
SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE
|
32721 |
|
|
Immunodeficiency and Autoimmunity, Bach2-Related
|
32723 |
|
|
Mental Retardation, Autosomal Dominant 59
|
32795 |
|
|
Mental Retardation, Autosomal Recessive 69
|
32715 |
|
|
Mental Retardation, Autosomal Recessive 70
|
32729 |
|
|
Mental Retardation, Autosomal Recessive 71
|
32789 |
|
|
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS
|
32772 |
|
|
cerebrospinal fluid Leakages
|
43327 |
|
|
FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME
|
32714 |
|
|
melanotic freckle, Hutchinson's
|
D018327 |
|
