New & Updated Pages
New Pages
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
September 8, 2016
August 30, 2016
August 23, 2016
August 2, 2016
- acute necrotizing encephalopathy type 1
- congenital nephrotic syndrome
- lateral meningocele syndrome
- NPHS1 gene
- NPHS2 gene
- RANBP2 gene
July 26, 2016
July 19, 2016
Updated Pages
July 18, 2017
July 11, 2017
- ABCA12 gene
- ALOX12B gene
- ALOXE3 gene
- nonbullous congenital ichthyosiform erythroderma
- surfactant dysfunction
July 5, 2017
- alpha thalassemia
- ARID1B gene
- CHD2 gene
- chromosome 8
- dentinogenesis imperfecta
- EXT1 gene
- RAD21 gene
- SHANK3 gene
- SYNGAP1 gene
- trichorhinophalangeal syndrome type II
- TRPS1 gene
June 27, 2017
- Behçet disease
- immune thrombocytopenia
- megalencephaly-capillary malformation syndrome
- MYBPC3 gene
- MYH7 gene
- Sézary syndrome
- Wolff-Parkinson-White syndrome
June 20, 2017
June 13, 2017
- Cohen syndrome
- DNMT1 gene
- EMD gene
- Emery-Dreifuss muscular dystrophy
- hereditary sensory and autonomic neuropathy type IE
- LMNA gene
- Myhre syndrome
- retinoblastoma
- SMAD4 gene
- VPS13B gene
May 30, 2017
May 23, 2017
May 16, 2017
- CARD14 gene
- FOXP3 gene
- immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
- KCNH2 gene
- KCNQ1 gene
- Romano-Ward syndrome
- SCN5A gene
May 9, 2017
- G6PD gene
- glucose-6-phosphate dehydrogenase deficiency
- long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Mayer-Rokitansky-Küster-Hauser syndrome
May 2, 2017
- familial dilated cardiomyopathy
- hereditary sensory and autonomic neuropathy type II
- RETREG1 gene
- WNK1 gene
April 25, 2017
April 18, 2017
April 11, 2017
April 4, 2017
March 28, 2017
- Crouzon syndrome with acanthosis nigricans
- FGFR3 gene
- frontotemporal dementia with parkinsonism-17
- mucopolysaccharidosis type III
- multiple endocrine neoplasia
March 21, 2017
- Loeys-Dietz syndrome
- MECP2 duplication syndrome
- MECP2 gene
- SMAD3 gene
- TGFB2 gene
- TGFBR1 gene
- TGFBR2 gene
- tubular aggregate myopathy
March 14, 2017
March 7, 2017
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- anhidrotic ectodermal dysplasia with immune deficiency
- chromosome 2
- cutis laxa
- tuberous sclerosis complex
February 28, 2017
February 21, 2017
February 14, 2017
- 2-methylbutyryl-CoA dehydrogenase deficiency
- ACADSB gene
- DMD gene
- LIPA gene
- lysosomal acid lipase deficiency
- X-linked dilated cardiomyopathy
February 7, 2017
January 31, 2017
- congenital hepatic fibrosis
- Emanuel syndrome
- Jackson-Weiss syndrome
- Kabuki syndrome
- KDM6A gene
- KMT2D gene
- mitochondrial membrane protein-associated neurodegeneration
- Pfeiffer syndrome
January 24, 2017
January 17, 2017
- CLN3 disease
- CLN3 gene
- CLN4 disease
- CLN6 gene
- CLN8 disease
- CLN8 gene
- DNAJC5 gene
- familial dilated cardiomyopathy
- FKRP gene
- FKTN gene
- ISPD gene
- LARGE1 gene
- MFSD8 gene
- POMT1 gene
- POMT2 gene
- Walker-Warburg syndrome
January 3, 2017
December 28, 2016
December 21, 2016
December 13, 2016
December 6, 2016
December 1, 2016
November 29, 2016
November 22, 2016
- Duchenne and Becker muscular dystrophy
- hereditary paraganglioma-pheochromocytoma
- primary spontaneous pneumothorax
- Refsum disease
- Snyder-Robinson syndrome
November 15, 2016
November 1, 2016
October 18, 2016
September 28, 2016
September 20, 2016
September 13, 2016
September 8, 2016
August 30, 2016
August 23, 2016
August 16, 2016
August 9, 2016
- EDN3 gene
- EDNRB gene
- epidermal nevus
- FGFR3 gene
- GAN gene
- giant axonal neuropathy
- HRAS gene
- MITF gene
- PAX3 gene
- SNAI2 gene
- SOX10 gene
- Waardenburg syndrome
August 2, 2016
- abdominal wall defect
- adult polyglucosan body disease
- Klippel-Trenaunay syndrome
- NOTCH3 gene
- PIK3CA gene