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April 28, 2020
- COG4 gene
- Constitutional mismatch repair deficiency syndrome
- Saul-Wilson syndrome
- STAC3 disorder
- STAC3 gene
April 15, 2020
February 11, 2020
November 26, 2019
October 15, 2019
October 1, 2019
September 10, 2019
September 3, 2019
August 20, 2019
July 9, 2019
June 11, 2019
May 28, 2019
Updated Pages
May 26, 2020
- ADAMTS13 gene
- Age-related macular degeneration
- AMT gene
- Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
- BRCA1 gene
- BRCA2 gene
- Cholangiocarcinoma
- GLDC gene
- HLCS gene
- Holocarboxylase synthetase deficiency
- Nonketotic hyperglycinemia
- RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
- Thrombotic thrombocytopenic purpura
May 12, 2020
- Central core disease
- Chromosome 7
- Glucose-galactose malabsorption
- Loeys-Dietz syndrome
- Multiminicore disease
- Prader-Willi syndrome
- Saethre-Chotzen syndrome
- SELENON gene
- SLC5A1 gene
- TWIST1 gene
April 28, 2020
- Breast cancer
- Cerebral cavernous malformation
- EPCAM gene
- Lynch syndrome
- MLH1 gene
- MSH2 gene
- MSH6 gene
- PMS2 gene
April 15, 2020
- FMR1 gene
- Fragile X-associated primary ovarian insufficiency
- Fragile X-associated tremor/ataxia syndrome
- Fragile X syndrome
- GRN gene
- GRN-related frontotemporal lobar degeneration
- Junctional epidermolysis bullosa
March 31, 2020
March 17, 2020
- Argininosuccinic aciduria
- ASL gene
- Cherubism
- Cri-du-chat syndrome
- Isovaleric acidemia
- IVD gene
- SBDS gene
- SH3BP2 gene
- Shwachman-Diamond syndrome
- Usher syndrome
March 3, 2020
- Bladder cancer
- CACNA1C gene
- Chorea-acanthocytosis
- CLCN1 gene
- CLN3 disease
- CLN3 gene
- FGFR3 gene
- KDM6A gene
- Myotonia congenita
- PIK3CA gene
- Timothy syndrome
- TP53 gene
February 11, 2020
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay
- CDKL5 deficiency disorder
- CDKL5 gene
- Chromosome 16
- COL7A1 gene
- CREBBP gene
- Crouzon syndrome
- DHCR7 gene
- Dystrophic epidermolysis bullosa
- EP300 gene
- FGFR2 gene
- Hereditary hemorrhagic telangiectasia
- Mucopolysaccharidosis type III
- Myhre syndrome
- Primary familial brain calcification
- Rubinstein-Taybi syndrome
- SACS gene
- SMAD4 gene
- Smith-Lemli-Opitz syndrome
January 21, 2020
- 22q13.3 deletion syndrome
- APOB gene
- Bernard-Soulier syndrome
- Costello syndrome
- Familial hypercholesterolemia
- LDLR gene
- LDLRAP1 gene
- PCSK9 gene
- Polycystic ovary syndrome
January 7, 2020
- 22q11.2 deletion syndrome
- Acute necrotizing encephalopathy type 1
- Acute promyelocytic leukemia
- Age-related macular degeneration
- Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
- Blau syndrome
- Congenital diaphragmatic hernia
- FLNA gene
- Gorlin syndrome
- Li-Fraumeni syndrome
- Spinocerebellar ataxia type 2
- Wiskott-Aldrich syndrome
December 10, 2019
- Axenfeld-Rieger syndrome
- Cerebral folate transport deficiency
- COL1A1 gene
- COL1A2 gene
- Fabry disease
- Menkes syndrome
- Osteogenesis imperfecta
- Stevens-Johnson syndrome/toxic epidermal necrolysis
November 26, 2019
November 12, 2019
October 29, 2019
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