Warburg Micro syndrome (WARBM), a Complex Hereditary Spastic Paraplegia or RAB18 Deficiency, is a rare autosomal recessive genetic disorder characterized...

A microdeletion syndrome is a syndrome caused by a chromosomal deletion smaller than 5 million base pairs (5 Mb) spanning several genes that is too small...

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

Williams syndrome (WS), also Williams–Beuren syndrome (WBS), is a genetic disorder that affects many parts of the body. Facial features frequently include...

Wallis–Zieff–Goldblatt syndrome Wandering spleen Warburg–Sjo–Fledelius syndrome; see Micro syndrome Warburg–Thomsen syndrome Warburton–Anyane–Yeboa syndrome Warfarin...

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

leading to a loss-of-function in L1CAM are also found in other X-linked syndromes. All of these disorders display corticospinal tract impairment (a hallmark...

variable endocrine and T-cell dysfunction Warburg Micro syndrome 2, 3, and 4 Zimmermann-Laband syndrome 1 and 3 High anterior hairline "Low anterior hairline...

Sjögren syndrome or Sjögren's syndrome (SjS, SS) is a long-term autoimmune disease that primarily affects the body's exocrine glands, particularly the...

Smith–Magenis syndrome (SMS), also known as 17p- syndrome, is a microdeletion syndrome characterized by an abnormality in the short (p) arm of chromosome...

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...

a set of characteristic physiological features which define whether a syndrome is a ciliopathy. Although ciliopathies are usually considered to involve...

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. While the symptoms...

Geoffroy Saint-Hilaire coined the term in 1836. The symptoms of phocomelia syndrome are undeveloped limbs and absent pelvic bones; however, various abnormalities...

Miller–Dieker syndrome, Miller–Dieker lissencephaly syndrome (MDLS), and chromosome 17p13.3 deletion syndrome is a micro deletion syndrome characterized...

Compartment syndrome is a condition in which increased pressure within one of the body's anatomical compartments results in insufficient blood supply to...

Syndromic microphthalmia is a class of rare congenital anomalies characterized by microphthalmia along with other non-ocular malformations. Syndromic...

piriformis syndrome is that resulting from a specific previous injury due to trauma. Large injuries include trauma to the buttocks while "micro traumas"...

distress syndrome (ARDS). This theory can help to explain non-traumatic causes of fat embolism. Fat embolism is presence of fat particles in the micro-circulation...

Patton Williams syndrome Mac Dermot Winter syndrome Macias–Flores–Garcia–Cruz–Rivera syndrome Mackay–Shek–Carr syndrome Macleod–Fraser syndrome Macrocephaly...

Most commonly, PMG is associated with Aicardi and Warburg micro syndromes. These syndromes both have frontoparieto polymicrogyria as their anomalies....

Princess sickness, alternatively known as princess complex, princess syndrome or princess disease (Vietnamese: bệnh công chúa; Chinese: 公主病; pinyin: gōng...

RAB18, RAB3GAP1, RAB3GAP2, or TBC1D20 are thought to cause Warburg Micro syndrome by disrupting RAB18 function. RAB3GAP1, RAB3GAP2, and TBC1D20 genes...

and mineralization potential of human primary osteoblasts. Warburg Micro syndrome RAB3GAP2 - the 150-kD noncatalytic subunit of RAB3GAP complex Tbc domain...

Hemolytic–uremic syndrome (HUS) is a group of blood disorders characterized by low red blood cells, acute kidney injury (previously called acute renal...

the inverse square law. These two second-order effects are examples of micro gravity. Airplanes have been used since 1959 to provide a nearly weightless...

Immune reconstitution inflammatory syndrome (IRIS) is a condition seen in some cases of HIV/AIDS or immunosuppression, in which the immune system begins...

usually requires surgery.[citation needed] Sinding-Larsen and Johansson syndrome, is an analogous condition involving the patellar tendon and the lower...

Tension myositis syndrome (TMS), also known as tension myoneural syndrome or mindbody syndrome, is a name given by John E. Sarno to what he claimed was...

visual loss, and optic nerve hypoplasia. Treacher Collins syndrome, autosomal dominant syndrome caused by mutation of TCOF1. Coloboma is part of a set of...