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Updated Pages
October 1, 2019
- Adult polyglucosan body disease
- Chromosome 10
- Congenital central hypoventilation syndrome
- Glutaric acidemia type I
- Limb-girdle muscular dystrophy
- Mitochondrial trifunctional protein deficiency
- Miyoshi myopathy
- MTHFR gene
- PHOX2B gene
- Spina bifida
August 20, 2019
- Apert syndrome
- Autosomal dominant hyper-IgE syndrome
- DOCK8 gene
- DOCK8 immunodeficiency syndrome
- FGFR2 gene
- MT-ATP6 gene
- Neuropathy, ataxia, and retinitis pigmentosa
- Ornithine translocase deficiency
- Schinzel-Giedion syndrome
- SETBP1 gene
- SLC25A15 gene
- STAT3 gene
August 6, 2019
- Catecholaminergic polymorphic ventricular tachycardia
- COL17A1 gene
- Familial restrictive cardiomyopathy
- Junctional epidermolysis bullosa
- LAMA3 gene
- LAMB3 gene
- LAMC2 gene
- N-acetylglutamate synthase deficiency
- NAGS gene
July 16, 2019
June 25, 2019
May 28, 2019
May 14, 2019
April 16, 2019
- Beta-propeller protein-associated neurodegeneration
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
- Dupuytren contracture
- Klinefelter syndrome
- PNP gene
- Purine nucleoside phosphorylase deficiency
April 2, 2019
March 19, 2019
March 12, 2019
March 5, 2019
- Adiposis dolorosa
- Bohring-Opitz syndrome
- DNMT3A overgrowth syndrome
- DOCK8 immunodeficiency syndrome
- DOORS syndrome
- Heterotaxy syndrome
- Hyperkalemic periodic paralysis
- Keratoderma with woolly hair
- Muenke syndrome
- PDGFRB gene
- Primary familial brain calcification
- SLC20A2 gene
- Spinal muscular atrophy with respiratory distress type 1
February 26, 2019
- ALG12-congenital disorder of glycosylation
- HAMP gene
- Hereditary hemochromatosis
- HFE gene
- HJV gene
- Ovarian cancer
- SLC40A1 gene
- Spinal muscular atrophy with lower extremity predominance
- Spinocerebellar ataxia type 3
- TFR2 gene
February 12, 2019
- Costeff syndrome
- FOXP2-related speech and language disorder
- Multiple sulfatase deficiency
- Nonbullous congenital ichthyosiform erythroderma
- OPA3 gene
February 5, 2019
January 15, 2019
January 8, 2019
January 2, 2019
December 11, 2018
December 4, 2018
- Allergic asthma
- Distal 18q deletion syndrome
- EDA gene
- EDAR gene
- EDARADD gene
- Hypohidrotic ectodermal dysplasia
- TCF4 gene
November 13, 2018
November 6, 2018
October 30, 2018
- Coloboma
- Dupuytren contracture
- Erythrokeratodermia variabilis et progressiva
- Fuchs endothelial dystrophy
- GJA1 gene
- GJB3 gene
- GJB4 gene
- LAMA2-related muscular dystrophy
- Rett syndrome
- Von Hippel-Lindau syndrome
October 23, 2018
- 2q37 deletion syndrome
- Charcot-Marie-Tooth disease
- Chromosome 17
- Congenital bilateral absence of the vas deferens
- Cyclic neutropenia
- GJB1 gene
- KIT gene
- Mevalonate kinase deficiency
- MFN2 gene
- MPZ gene
- PMP22 gene
- RAI1 gene
- SMN1 gene
- SMN2 gene
- Spinal muscular atrophy