Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare autosomal recessive genetic disorder that is characterized by mild...

recessive trait and the mutation is linked to chromosome 8. A study of Roberts syndrome, a genetic disorder showing similar symptoms to phocomelia, has shed...

Norman–Roberts syndrome is a rare form of microlissencephaly caused by a mutation in the RELN gene. A small number of cases have been described. The syndrome...

deletion syndrome 22q11.2 duplication syndrome 22q13 deletion syndrome 2p15-16.1 microdeletion syndrome 2q37 deletion syndrome 3-M syndrome 3C syndrome 3q29...

Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems...

syndrome critical regions in chromosome 17p13.3". Human Molecular Genetics. 6 (2): 147–55. doi:10.1093/hmg/6.2.147. PMID 9063734. Norman MG, Roberts M...

Down syndrome (United States) or Down's syndrome (United Kingdom and other English-speaking nations), also known as trisomy 21, is a genetic disorder...

RV, Turner S, Ledbetter DH, Martin CL (1993). "17q12 Recurrent Deletion Syndrome". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya...

Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare lifelong genetic disease that mainly affects the brain and spinal...

Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with...