Conditions

Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency

OMIM_613752 Condition
Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency

Achondroplasia

Orphanet_15 Condition
12/01/2016

Aneurysm-osteoarthritis syndrome

OMIM_613795 Condition
Loeys-Dietz Syndrome type 3
12/01/2016

autosomal recessive nonsyndromic deafness 44

OMIM_610154 Condition
autosomal recessive nonsyndromic deafness type 44
05/10/2017

Alström syndrome

Orphanet_64 Condition
02/10/2017

Lafora disease

OMIM_254780 Condition
EPM2

hyperargininemia

OMIM_207800 Condition
deficiency of canavanase

Fanconi anemia

Orphanet_84 Condition
01/05/2017

Epileptic Encephalopathy, Early Infantile, 12

OMIM_613722 Condition
Epileptic Encephalopathy, Early Infantile, type 12

Pyruvate dehydrogenase phosphatase deficiency

OMIM_608782 Condition
PDH phosphatase deficiency

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome

OMIM_600001 Condition
Yorifuji-Okuno syndrome

COG7-CDG

OMIM_608779 Condition
CDG2E

lysinuric protein intolerance

OMIM_222700 Condition
hyperdibasic aminoaciduria

susceptibility to colorectal cancer 1

OMIM_608812 Condition
Colorectal Cancer, Susceptibility To, type 1
06/08/2017

Usher syndrome type 1

OMIM_276900 Condition
US1
01/30/2017

Treacher Collins Syndrome 2

OMIM_613717 Condition
Treacher Collins Syndrome type 2


DPM1-CDG

OMIM_608799 Condition
Congenital disorder of glycosylation type Ie

Aortic Aneurysm, Familial Thoracic 7

OMIM_613780 Condition
Aortic Aneurysm, Familial Thoracic type 7
05/13/2015

rhizomelic chondrodysplasia punctata type 2

OMIM_222765 Condition
Glyceronephosphate O-Acyltransferase Deficiency