|
severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
|
14787 |
|
|
growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia
|
11478 |
|
|
severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
|
14784 |
|
|
growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia
|
11478 |
|
|
juvenile tay-sachs disease
|
C564782 |
|
|
biliary tree inflammation
|
4789 |
|
|
perihilar bile duct carcinoma
|
44788 |
|
|
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
|
16478 |
|
|
combined immunodeficiency due to DOCK8 deficiency
|
9478 |
|
|
epileptic encephalopathy, early infantile, 22
|
10478 |
|
|
combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency
|
9478 |
|
|
digit papillary eccrine carcinoma
|
44789 |
|
|
digital papillary eccrine carcinoma
|
44789 |
|
