Updated Pages
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
- 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
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