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Topic Review
HDAC8 Gene
Histone deacetylase 8
  • 855
  • 22 Dec 2020
Topic Review
INSR Gene
Insulin receptor
  • 855
  • 23 Dec 2020
Topic Review
PKP2 Gene
plakophilin 2
  • 855
  • 25 Dec 2020
Topic Review
Miller Syndrome
Miller syndrome is a rare condition that mainly affects the development of the face and limbs. The severity of this disorder varies among affected individuals.
  • 854
  • 23 Dec 2020
Topic Review
Congenital Stromal Corneal Dystrophy
Congenital stromal corneal dystrophy is an inherited eye disorder.
  • 854
  • 24 Dec 2020
Topic Review
DYSF Gene
Dysferlin: The DYSF gene provides instructions for making a protein called dysferlin. 
  • 854
  • 24 Dec 2020
Topic Review
Transthyretin Amyloidosis
Transthyretin amyloidosis is a slowly progressive condition characterized by the buildup of abnormal deposits of a protein called amyloid (amyloidosis) in the body's organs and tissues.
  • 854
  • 23 Dec 2020
Topic Review
Hereditary Pancreatitis
Hereditary pancreatitis is a genetic condition characterized by recurrent episodes of inflammation of the pancreas (pancreatitis).
  • 853
  • 23 Dec 2020
Topic Review
Citrullinemia
Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. Two types of citrullinemia have been described; they have different signs and symptoms and are caused by mutations in different genes.
  • 853
  • 24 Dec 2020
Topic Review
Poikiloderma with Neutropenia
Poikiloderma with neutropenia (PN) is a disorder that mainly affects the skin and the immune system.
  • 853
  • 24 Dec 2020
Topic Review
Progressive External Ophthalmoplegia
Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40 and slowly worsens over time.
  • 853
  • 24 Dec 2020
Topic Review
PEX7 Gene
peroxisomal biogenesis factor 7
  • 853
  • 25 Dec 2020
Topic Review
Guillain-Barré Syndrome
Guillain-Barré syndrome is an autoimmune disorder that affects the nerves.
  • 852
  • 23 Dec 2020
Topic Review
Trisomy 18
Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with abnormalities in many parts of the body.
  • 852
  • 23 Dec 2020
Topic Review
Weissenbacher-Zweymüller Syndrome
Infants born with Weissenbacher-Zweymüller syndrome are smaller than average because the bones in their arms and legs are unusually short. The thigh and upper arm bones are wider than usual at the ends (described as dumbbell-shaped), and the bones of the spine (vertebrae) may also be abnormally shaped. High-frequency hearing loss occurs in some cases. Distinctive facial features include wide-set protruding eyes, a small and upturned nose with a flat bridge, and a small lower jaw. Some affected infants are born with an opening in the roof of the mouth (a cleft palate). Most people with Weissenbacher-Zweymüller syndrome experience significant "catch-up" growth in the bones of the arms and legs during childhood. As a result, adults with this condition are not unusually short. However, affected adults still have other signs and symptoms of Weissenbacher-Zweymüller syndrome, including distinctive facial features and hearing loss.
  • 852
  • 23 Dec 2020
Topic Review
Nonsyndromic Holoprosencephaly
Nonsyndromic holoprosencephaly is an abnormality of brain development that also affects the head and face.
  • 852
  • 24 Dec 2020
Topic Review
CLN7 Disease
CLN7 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin between ages 2 and 7. The initial features usually include recurrent seizures (epilepsy) and the loss of previously acquired skills (developmental regression). Affected children also develop muscle twitches (myoclonus), difficulty coordinating movements (ataxia), speech impairment, and vision loss. Mental functioning and motor skills (such as sitting and walking) decline with age. Individuals with CLN7 disease typically do not survive past their teens.
  • 852
  • 24 Dec 2020
Topic Review
Familial Atrial Fibrillation
Familial atrial fibrillation is an inherited abnormality of the heart's normal rhythm.
  • 852
  • 25 Dec 2020
Topic Review
Lymphedema-Distichiasis Syndrome
Lymphedema-distichiasis syndrome is a condition that affects the normal function of the lymphatic system, which is a part of the circulatory and immune systems. The lymphatic system produces and transports fluids and immune cells throughout the body.
  • 851
  • 24 Dec 2020
Topic Review
Chediak-Higashi Syndrome
Chediak-Higashi syndrome is a condition that affects many parts of the body, particularly the immune system. This disease damages immune system cells, leaving them less able to fight off invaders such as viruses and bacteria. As a result, most people with Chediak-Higashi syndrome have repeated and persistent infections starting in infancy or early childhood. These infections tend to be very serious or life-threatening.
  • 851
  • 24 Dec 2020
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