Updated Pages
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
- 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
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