Updated Pages
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
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
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