|
CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES
|
32781 |
|
|
malignant middle Ear tumor
|
3275 |
|
|
Sed With Elevated Blood Lysosomal Enzymes
|
32721 |
|
|
Developmental Delay, Epileptic Encephalopathy, Cerebral Atrophy, and Abnormal Myelination
|
32768 |
|
|
FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME
|
32714 |
|
|
melanotic freckle, Hutchinson's
|
D018327 |
|
|
Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Recessive
|
32717 |
|
|
lymphedema, hereditary, IC
|
13278 |
|
|
lymphedema, hereditary, IC; LMPH1C
|
http://purl.obolibrary.org/obo/MONDO_0013278 |
|
|
hydroxyacyl-CoA dehydrogenase II deficiency
|
10327 |
|
|
HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES
|
32780 |
|
|
HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE
|
32796 |
|
|
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9
|
32742 |
|
|
SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE
|
32721 |
|
|
cerebrospinal fluid Leakages
|
43327 |
|
