New & Updated Pages
New Pages
September 5, 2017
- 5q31.3 microdeletion syndrome
- NGLY1-congenital disorder of deglycosylation
- NGLY1 gene
- PPP2R5D gene
- PPP2R5D-related intellectual disability
- PURA gene
- PURA syndrome
- TUBB4A gene
- TUBB4A-related leukodystrophy
- What are genome editing and CRISPR-Cas9?
August 29, 2017
August 22, 2017
August 8, 2017
August 2, 2017
- aldosterone-producing adenoma
- anauxetic dysplasia
- ATP1A1 gene
- blepharocheilodontic syndrome
- CACNA1D gene
- CTNND1 gene
- Grange syndrome
- JAK3-deficient severe combined immunodeficiency
- JAK3 gene
- SCN8A gene
- SCN8A-related epilepsy with encephalopathy
- STXBP1 encephalopathy with epilepsy
- STXBP1 gene
- YY1AP1 gene
July 25, 2017
July 18, 2017
- autosomal dominant cerebellar ataxia, deafness, and narcolepsy
- genetic epilepsy with febrile seizures plus
- Gordon Holmes syndrome
- RNF216 gene
July 11, 2017
July 5, 2017
- ASH1L gene
- autism spectrum disorder
- CHD8 gene
- DYRK1A gene
- POGZ gene
- trichorhinophalangeal syndrome type I
June 27, 2017
June 13, 2017
June 6, 2017
May 30, 2017
May 16, 2017
May 9, 2017
- FBXL4 gene
- FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
- MAOA gene
- monoamine oxidase A deficiency
- PADI3 gene
- TCHH gene
- TGM3 gene
- uncombable hair syndrome
May 2, 2017
April 25, 2017
April 18, 2017
April 11, 2017
April 4, 2017
- ADNP gene
- ADNP syndrome
- ankyrin-B syndrome
- DEPDC5 gene
- familial focal epilepsy with variable foci
- glycoprotein VI deficiency
- GP6 gene
- NPRL2 gene
- NPRL3 gene
March 21, 2017
March 14, 2017
March 7, 2017
- GNAQ gene
- IL31RA gene
- OSMR gene
- primary localized cutaneous amyloidosis
- SATB2-associated syndrome
- SATB2 gene
- Sturge-Weber syndrome
February 21, 2017
February 14, 2017
February 7, 2017
- FAM111B gene
- hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
January 31, 2017
- AKT3 gene
- BAP1 gene
- BAP1 tumor predisposition syndrome
- CCND2 gene
- megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
- PIK3R2 gene
January 24, 2017
January 17, 2017
January 10, 2017
- acrocallosal syndrome
- brain-lung-thyroid syndrome
- HIVEP2 gene
- HIVEP2-related intellectual disability
- KIF7 gene
- NKX2-1 gene
December 13, 2016
- ASXL1 gene
- Bohring-Opitz syndrome
- CHD2 gene
- CHD2 myoclonic encephalopathy
- FGF8 gene
- OTULIN gene
- otulipenia
November 29, 2016
November 15, 2016
- non-alcoholic fatty liver disease
- PNPLA3 gene
- RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
November 8, 2016
November 1, 2016
October 25, 2016
October 18, 2016
- Boucher-Neuhäuser syndrome
- epilepsy-aphasia spectrum
- F7 gene
- factor VII deficiency
- GRIN2A gene
- Hartsfield syndrome
- PNPLA6 gene
September 28, 2016
- ABL1 gene
- BCR gene
- CA5A gene
- carbonic anhydrase VA deficiency
- CARD9 gene
- chronic myeloid leukemia
- familial candidiasis
- IL17RC gene
- STAT1 gene
September 20, 2016
- EARS2 gene
- leukoencephalopathy with thalamus and brainstem involvement and high lactate
- Liebenberg syndrome
- PITX1 gene
September 13, 2016
- autosomal dominant leukodystrophy with autonomic disease
- Dupuytren contracture
- familial partial lipodystrophy
- FOXP2 gene
- FOXP2-related speech and language disorder
- LMNB1 gene
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