|
cerebellar, ocular, craniofacial, and genital syndrome
|
32774 |
|
|
Toxoplasma, rubella, cytomegalovirus and herpes simplex mixed infection
|
43275 |
|
|
autosomal recessive deafness 46
|
12327 |
|
|
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
|
10327 |
|
|
3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency
|
10327 |
|
|
glucosephosphate isomerase deficiency
|
13275 |
|
|
2-Methyl-3-hydroxybutyryl-Coa dehydrogenase deficiency
|
http://purl.obolibrary.org/obo/MONDO_0010327 |
|
|
17 beta-hydroxysteroid dehydrogenase type 10 deficiency
|
10327 |
|
|
global developmental delay, progressive ataxia, and elevated glutamine
|
32733 |
|
|
MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome
|
32705 |
|
|
chromosome 14q11-q22 deletion syndrome
|
13272 |
|
|
mitochondrial DNA depletion syndrome 16 (hepatic type)
|
32799 |
|
|
goniodysgenesis intellectual disability short stature
|
23272 |
|
