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Topic Review
SLC3A1 Gene
solute carrier family 3 member 1
  • 706
  • 24 Dec 2020
Topic Review
HNF1B Gene
HNF1 homeobox B
  • 705
  • 23 Dec 2020
Topic Review
LAMB3 Gene
Laminin subunit beta 3
  • 705
  • 23 Dec 2020
Topic Review
Lattice Corneal Dystrophy Type II
Lattice corneal dystrophy type II is characterized by an accumulation of protein clumps called amyloid deposits in tissues throughout the body.
  • 705
  • 23 Dec 2020
Topic Review
Legg-Calvé-Perthes Disease
Legg-Calvé-Perthes disease is a bone disorder that affects the hips. Usually, only one hip is involved, but in about 10 percent of cases, both hips are affected. Legg-Calvé-Perthes disease begins in childhood, typically between ages 4 and 8, and affects boys more frequently than girls.
  • 705
  • 23 Dec 2020
Topic Review
DARS1 Gene
Aspartyl-tRNA Synthetase: The DARS1 gene provides instructions for making an enzyme called aspartyl-tRNA synthetase. 
  • 705
  • 23 Dec 2020
Topic Review
RBM8A Gene
RNA binding motif protein 8A
  • 705
  • 23 Dec 2020
Topic Review
Nonsyndromic Aplasia Cutis Congenita
Nonsyndromic aplasia cutis congenita is a condition in which babies are born with localized areas of missing skin (lesions). These areas resemble ulcers or open wounds, although they are sometimes already healed at birth. Lesions most commonly occur on the top of the head (skull vertex), although they can be found on the torso or limbs. In some cases, the bone and other tissues under the skin defect are also underdeveloped.
  • 705
  • 24 Dec 2020
Topic Review
Chanarin-Dorfman Syndrome
Chanarin-Dorfman syndrome is a condition in which fats (lipids) are stored abnormally in the body. The signs and symptoms vary greatly among individuals with Chanarin-Dorfman syndrome. Some people may have ichthyosis only, while others may have problems affecting many areas of the body.
  • 705
  • 24 Dec 2020
Topic Review
CEP290 Gene
centrosomal protein 290
  • 705
  • 24 Dec 2020
Topic Review
COL11A2 Gene
collagen type XI alpha 2 chain
  • 705
  • 24 Dec 2020
Topic Review
SOX10 Gene
SRY-box 10
  • 705
  • 24 Dec 2020
Topic Review
LRRK2 Gene
Leucine rich repeat kinase 2
  • 704
  • 23 Dec 2020
Topic Review
Left Ventricular Noncompaction
Left ventricular noncompaction is a heart (cardiac) muscle disorder that occurs when the lower left chamber of the heart (left ventricle), which helps the heart pump blood, does not develop correctly.
  • 704
  • 23 Dec 2020
Topic Review
Neurofibromatosis Type 2
Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system.
  • 704
  • 23 Dec 2020
Topic Review
ZEB2 Gene
Zinc finger E-box binding homeobox 2
  • 704
  • 24 Dec 2020
Topic Review
COL7A1 Gene
collagen type VII alpha 1 chain
  • 704
  • 24 Dec 2020
Topic Review
Early-onset Primary Dystonia
Early-onset primary dystonia is a condition characterized by progressive problems with movement, typically beginning in childhood. Dystonia is a movement disorder that involves involuntary tensing of the muscles (muscle contractions), twisting of specific body parts such as an arm or a leg, rhythmic shaking (tremors), and other uncontrolled movements. A primary dystonia is one that occurs without other neurological symptoms, such as seizures or a loss of intellectual function (dementia). Early-onset primary dystonia does not affect a person's intelligence.
  • 704
  • 25 Dec 2020
Topic Review
SDHAF2 Gene
succinate dehydrogenase complex assembly factor 2
  • 703
  • 24 Dec 2020
Topic Review
EXT1 Gene
Exostosin glycosyltransferase 1
  • 703
  • 24 Dec 2020
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