Acrocapitofemoral dysplasia
|
(Orphanet:63446)
|
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA
|
(OMIM:609945)
|
Carpenter syndrome
|
(Orphanet:65759)
|
GM1 gangliosidosis type 3
|
(Orphanet:79257)
|
Goldblatt syndrome
|
(Orphanet:166272)
|
Hurler syndrome
|
(Orphanet:93473)
|
Hurler-Scheie syndrome
|
(Orphanet:93476)
|
MUCOLIPIDOSIS III GAMMA
|
(OMIM:252605)
|
Metaphyseal anadysplasia
|
(Orphanet:1040)
|
Mucolipidosis type 2
|
(Orphanet:576)
|
Mucopolysaccharidosis type 1
|
(Orphanet:579)
|
Mucopolysaccharidosis type 6
|
(Orphanet:583)
|
Rubinstein-Taybi syndrome due to CREBBP mutations
|
(Orphanet:353277)
|
Simpson-Golabi-Behmel syndrome
|
(Orphanet:373)
|
Spondyloepimetaphyseal dysplasia - hypotrichosis
|
(Orphanet:168443)
|
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
|
(Orphanet:93358)
|
Spondyloepimetaphyseal dysplasia with joint laxity
|
(Orphanet:93359)
|
Spondyloepimetaphyseal dysplasia, Bieganski type
|
(Orphanet:168448)
|
Spondyloepimetaphyseal dysplasia, Missouri type
|
(Orphanet:93356)
|
Spondylometaphyseal dysplasia, Sedaghatian type
|
(Orphanet:93317)
|