New & Updated Pages
Updated Pages
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
- 15q13.3 microdeletion
- Lafora progressive myoclonus epilepsy
- mycosis fungoides
- steatocystoma multiplex
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
July 26, 2016
July 19, 2016
July 12, 2016
- adenosine monophosphate deaminase deficiency
- AMPD1 gene
- hereditary hemorrhagic telangiectasia
- hereditary neuropathy with liability to pressure palsies
- PMP22 gene
- Sjögren syndrome
June 28, 2016
June 20, 2016
- BRAF gene
- DLL3 gene
- MAP2K1 gene
- MESP2 gene
- Noonan syndrome with multiple lentigines
- spondylocostal dysostosis
- spondylothoracic dysostosis
June 13, 2016
June 6, 2016
- CDH23 gene
- Cockayne syndrome
- ERCC6 gene
- ERCC8 gene
- Ewing sarcoma
- Friedreich ataxia
- Leigh syndrome
- mitochondrial DNA
- MT-ATP6 gene
- MYO7A gene
- SURF1 gene
- surfactant dysfunction
- USH2A gene
- Usher syndrome
May 30, 2016
- common variable immune deficiency
- KRAS gene
- Noonan syndrome
- PTPN11 gene
- RAF1 gene
- SOS1 gene
- TNFRSF13B gene
May 24, 2016
- chromosome 14
- Hutchinson-Gilford progeria syndrome
- otospondylomegaepiphyseal dysplasia
- progressive external ophthalmoplegia
- Shprintzen-Goldberg syndrome
- SLC25A4 gene
- TWNK gene
- Weissenbacher-Zweymüller syndrome
May 9, 2016
May 2, 2016
- ACTA1 gene
- congenital fiber-type disproportion
- mycosis fungoides
- RYR1 gene
- TPM3 gene
- X-linked severe combined immunodeficiency
April 25, 2016
April 19, 2016
- ALS2 gene
- antiphospholipid syndrome
- chromosome 7
- infantile-onset ascending hereditary spastic paralysis
April 11, 2016
- COL11A1 gene
- COL11A2 gene
- Moebius syndrome
- Poland syndrome
- spondyloepiphyseal dysplasia congenita
- tetrasomy 18p
March 28, 2016
March 21, 2016
March 14, 2016
- ALX4 gene
- enlarged parietal foramina
- MSX2 gene
- Pendred syndrome
- pseudohypoaldosteronism type 2
- SLC26A4 gene
- WNK1 gene
- WNK4 gene
March 7, 2016
February 29, 2016
February 22, 2016
- Coffin-Lowry syndrome
- erythromelalgia
- IDH1 gene
- IDH2 gene
- Maffucci syndrome
- MECP2-related severe neonatal encephalopathy
February 15, 2016
February 8, 2016
February 1, 2016
- GJB2 gene
- GJB6 gene
- KCNQ4 gene
- mitochondrial DNA
- nonsyndromic hearing loss
- Pompe disease
- POU3F4 gene
- riboflavin transporter deficiency neuronopathy
- SLC52A3 gene
- STRC gene
- TECTA gene
January 18, 2016
- AGPAT2 gene
- BMPR2 gene
- BSCL2 gene
- chronic granulomatous disease
- congenital generalized lipodystrophy
- Kleefstra syndrome
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