Acromesomelic dysplasia, Maroteaux type
|
(Orphanet:40)
|
Apert syndrome
|
(Orphanet:87)
|
CYSTINOSIS, NEPHROPATHIC
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(OMIM:219800)
|
Coffin-Lowry syndrome
|
(Orphanet:192)
|
DK1-CDG
|
(Orphanet:91131)
|
GELEOPHYSIC DYSPLASIA 1
|
(OMIM:231050)
|
Ichthyosis-hypotrichosis syndrome
|
(Orphanet:91132)
|
Mandibular hypoplasia-deafness-progeroid syndrome
|
(Orphanet:363649)
|
OSTEOGENESIS IMPERFECTA, TYPE V
|
(OMIM:610967)
|
OSTEOGENESIS IMPERFECTA, TYPE VII
|
(OMIM:610682)
|
OSTEOGENESIS IMPERFECTA, TYPE XI
|
(OMIM:610968)
|
Pseudoleprechaunism syndrome, Patterson type
|
(Orphanet:2976)
|
Spondylometaphyseal dysplasia, Sedaghatian type
|
(Orphanet:93317)
|
TRICHORHINOPHALANGEAL SYNDROME, TYPE III
|
(OMIM:190351)
|