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Topic Review
Bladder Exstrophy Epispadias Complex
The bladder exstrophy–epispadias complex (BEEC) is an abdominal midline malformation comprising a spectrum of congenital genitourinary abnormalities of the abdominal wall, pelvis, urinary tract, genitalia, anus, and spine. The vast majority of BEEC cases are classified as non-syndromic and the etiology of this malformation is still unknown.
  • 716
  • 05 Aug 2021
Topic Review
ANKRD11 Gene
ankyrin repeat domain 11
  • 715
  • 24 Dec 2020
Topic Review
SCN9A Gene
sodium voltage-gated channel alpha subunit 9
  • 715
  • 24 Dec 2020
Topic Review
Preimplantation Genetic Testing for Cancer Predisposition Syndromes
Cancer Predisposition Syndromes (CPSs), also known as Hereditary Cancer Syndromes (HCSs), represent a group of genetic disorders associated with an increased lifetime risk of developing cancer.
  • 715
  • 20 Nov 2023
Topic Review
Melorheostosis
Melorheostosis is a rare bone disease.
  • 714
  • 23 Dec 2020
Topic Review
ALG1-congenital Disorder of Glycosylation
ALG1-congenital disorder of glycosylation (ALG1-CDG, also known as congenital disorder of glycosylation type Ik) is an inherited disorder with varying signs and symptoms that typically develop during infancy and can affect several body systems.
  • 714
  • 23 Dec 2020
Topic Review
SCNN1B Gene
sodium channel epithelial 1 beta subunit
  • 714
  • 24 Dec 2020
Topic Review
Raynaud Phenomenon
Raynaud phenomenon is a condition in which the body's normal response to cold or emotional stress is exaggerated, resulting in abnormal spasms (vasospasms) in small blood vessels called arterioles.
  • 714
  • 24 Dec 2020
Topic Review
DSC2 Gene
Desmocollin 2: The DSC2 gene provides instructions for making a protein called desmocollin-2. 
  • 714
  • 24 Dec 2020
Topic Review
NOP56 Gene
NOP56 ribonucleoprotein
  • 714
  • 24 Dec 2020
Topic Review
Pantothenate Kinase-Associated Neurodegeneration
Pantothenate kinase-associated neurodegeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system.
  • 714
  • 24 Dec 2020
Topic Review
Rothmund-Thomson Syndrome
Rothmund-Thomson syndrome is a rare condition that affects many parts of the body, especially the skin.
  • 714
  • 24 Dec 2020
Topic Review
FKRP Gene
Fukutin related protein: The FKRP gene provides instructions for making a protein called fukutin-related protein (FKRP). 
  • 714
  • 25 Dec 2020
Topic Review
NGF Gene
nerve growth factor
  • 713
  • 23 Dec 2020
Topic Review
RAI1 Gene
retinoic acid induced 1
  • 713
  • 23 Dec 2020
Topic Review
Nonsyndromic Hearing Loss
Nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. In contrast, syndromic hearing loss occurs with signs and symptoms affecting other parts of the body.
  • 713
  • 24 Dec 2020
Topic Review
WNK1 Gene
WNK lysine deficient protein kinase 1.
  • 713
  • 24 Dec 2020
Topic Review
SUCLG1 Gene
Succinate-CoA ligase alpha subunit: The SUCLG1 gene provides instructions for making one part, the alpha subunit, of an enzyme called succinate-CoA ligase.
  • 713
  • 24 Dec 2020
Topic Review
Mitochondrial tRNASer(UCN) Gene
Mitochondrial tRNASer(UCN) is considered a hot-spot for non-syndromic and aminoglycoside-induced hearing loss. However, many patients have been described with more extensive neurological diseases, mainly including epilepsy, myoclonus, ataxia, and myopathy. 
  • 713
  • 24 Feb 2023
Topic Review
HSPG2 Gene
Heparan sulfate proteoglycan 2
  • 712
  • 23 Dec 2020
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