|
AICA-ribosiduria
|
(Orphanet:250977)
|
|
Alpha-mannosidosis
|
(Orphanet:61)
|
|
Arterial calcification, generalized, of infancy, 1
|
(OMIM:208000)
|
|
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
|
(Orphanet:231130)
|
|
Brachydactyly-long thumb syndrome
|
(Orphanet:2946)
|
|
Cardiomyopathy, familial hypertrophic, 18
|
(OMIM:613874)
|
|
Costello syndrome
|
(Orphanet:3071)
|
|
Fabry disease
|
(Orphanet:324)
|
|
Familial isolated restrictive cardiomyopathy
|
(Orphanet:75249)
|
|
Familial sick sinus syndrome
|
(Orphanet:166282)
|
|
Gaucher disease - ophthalmoplegia - cardiovascular calcification
|
(Orphanet:2072)
|
|
Gaucher disease type 2
|
(Orphanet:77260)
|
|
Glycogen storage disease due to glycogen branching enzyme deficiency
|
(Orphanet:367)
|
|
Heart tumor of the child
|
(Orphanet:875)
|
|
Hurler syndrome
|
(Orphanet:93473)
|
|
Hurler-Scheie syndrome
|
(Orphanet:93476)
|
|
Hypermethioninemia encephalopathy due to adenosine kinase deficiency
|
(Orphanet:289290)
|
|
Idiopathic recurrent pericarditis
|
(Orphanet:251307)
|
|
Leprechaunism
|
(Orphanet:508)
|
|
Marden-Walker syndrome
|
(Orphanet:2461)
|
|
Monosomy 9p
|
(Orphanet:261112)
|
|
Mucolipidosis type 2
|
(Orphanet:576)
|
|
Mucopolysaccharidosis type 2
|
(Orphanet:580)
|
|
Mucopolysaccharidosis type 2, severe form
|
(Orphanet:217085)
|
|
Perinatal lethal hypophosphatasia
|
(Orphanet:247623)
|
|
SECKEL SYNDROME 2
|
(OMIM:606744)
|
|
Sneddon syndrome
|
(Orphanet:820)
|
|
Transaldolase deficiency
|
(Orphanet:101028)
|
|
Tropical endomyocardial fibrosis
|
(Orphanet:75565)
|