Rare Disease Library

Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome

Leukoencephalopathy-metaphyseal chondrodysplasia syndrome · H-SMD

Cartilage-hair hypoplasia

Autosomal recessive metaphyseal chondrodysplasia · Metaphyseal chondrodysplasia, McKusick type

Cree leukoencephalopathy

Early-onset calcifying leukoencephalopathy-skeletal dysplasia

BANDDOS · Brain abnormalities-neurodegeneration-dysosteosclerosis disease

Ghosal hematodiaphyseal dysplasia

Diaphyseal dysplasia-anemia syndrome · Ghosal syndrome

Lethal chondrodysplasia

Lethal occipital encephalocele-skeletal dysplasia syndrome

Leukoencephalopathy-dystonia-motor neuropathy syndrome

Leukoencephalopathy-palmoplantar keratoderma syndrome

Megalencephalic leukoencephalopathy with subcortical cysts

MLC · Megalencephalic leukodystrophy

Metaphyseal chondrodysplasia, Jansen type

Metaphyseal chondrodysplasia, Kaitila type

Metaphyseal chondrodysplasia, Rosenberg type

Rosenberg-Lohr syndrome

Metaphyseal chondrodysplasia, Schmid type

MDSC · SMCD

Metaphyseal chondrodysplasia, Spahr type

Microspherophakia-metaphyseal dysplasia syndrome

Verloes-Van Maldergem-de Marneffe syndrome

OBSOLETE: Unclassified metaphyseal chondrodysplasia

Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome

Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome

SMD-CRD

Spondylometaphyseal dysplasia-corneal dystrophy syndrome

SMD-corneal dystrophy syndrome

Weissenbacher-Zweymuller syndrome

Pierre Robin sequence-fetal chondrodysplasia syndrome · Pierre Robin syndrome-fetal chondrodysplasia syndrome