PAM16 spondylodysplastic dysplasia is a rare, inherited skeletal disorder caused by harmful (“pathogenic”) changes in a gene called PAM16. PAM16 encodes a ...

Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type (often shortened to SMD-MDM or Mégarbané type) is a very rare genetic bone disorder. A baby ...

Spondyloepimetaphyseal dysplasia, Irapa type is a very rare inherited bone-growth disorder. It mainly affects the spine (spondylo-), the ends of bones ...

Autosomal recessive spondylo-epi-metaphyseal dysplasia is a rare inherited bone-growth disorder. “Spondylo-” means the spine is involved. “Epimetaphyseal” ...

Spondylothoracic dysostosis (STD) is a rare condition present from birth. It mainly affects the bones of the spine and the ribs. The vertebrae do not form and ...

Jarcho-Levin syndrome is a genetic (inherited) condition that starts in early embryo life. The “body clock” that times the making of spinal segments does not ...

Spondylocostal dysostosis (SCDO) is a rare, inherited condition that affects the backbone (spine) and the ribs. In SCDO, many vertebrae do not form or separate ...

Autosomal recessive spondylocostal dysostosis is a rare birth condition where the spine bones (vertebrae) do not form and separate in the normal way, and the ...

Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is a very rare, inherited brain disorder that mainly affects the cerebellum (the balance and coordination ...

SNX14 autosomal recessive cerebellar ataxia—often called SCAR20—is a rare, inherited brain disorder that starts in infancy or early childhood. Children have ...

Intellectual Disability, Coarse Face, Macrocephaly, Cerebellar Hypotrophy Syndrome appear together, doctors consider a group of rare neurogenetic conditions. ...

Intellectual disability–coarse face–macrocephaly–cerebellar hypoplasia syndrome is an ultra-rare, likely genetic brain-development disorder. Children have ...

Autosomal Recessive Cerebellar Ataxia Caused by Mutation in SNX14 (SCAR20) is a rare, inherited brain disorder that starts in infancy or early childhood. ...

Autosomal Recessive Spinocerebellar Ataxia 20 (SCAR20) is a very rare, inherited brain disorder that starts in infancy or early childhood. Children have ...

PMPCA autosomal recessive congenital cerebellar ataxia is a rare inherited brain disorder that mainly affects the cerebellum, the part of the brain that ...

Cerebelloparenchymal disorder III (CPD III) is a rare, inherited brain condition that mainly affects the cerebellum, the part of the brain that controls ...

Autosomal recessive congenital cerebellar ataxia due to PMPCA mutation is a genetic brain movement disorder that starts in infancy or early childhood. ...

Autosomal recessive spinocerebellar ataxia 2 (SCAR2) is a rare, inherited brain disorder. It mainly affects the cerebellum, the part of the brain that controls ...

CWF19L1 - Autosomal Recessive Congenital Cerebellar Ataxia (SCAR17) is a rare, inherited brain disorder that starts in infancy or early childhood. It mainly ...

Autosomal Recessive Congenital Cerebellar Ataxia Caused by Mutation in CWF19L1 (SCAR17) is a rare, inherited brain disorder. It mainly affects the cerebellum, ...