Recently Added Pages - Genetics Home Reference - NIH

Recently Added Pages - Genetics Home Reference - NIH

Updated Pages

February 12, 2019

• Costeff syndrome
• FOXP2-related speech and language disorder
• Multiple sulfatase deficiency
• Nonbullous congenital ichthyosiform erythroderma
• OPA3 gene

February 5, 2019

• Gillespie syndrome

January 15, 2019

• 15q11-q13 duplication syndrome
• Chromosome 15

January 8, 2019

• Congenital generalized lipodystrophy
• Factor XIII deficiency

January 2, 2019

• Autoimmune lymphoproliferative syndrome
• FAS gene
• KHDC3L gene
• NLRP7 gene
• Recurrent hydatidiform mole

December 11, 2018

• Y chromosome
• Y chromosome infertility

December 4, 2018

• Allergic asthma
• Distal 18q deletion syndrome
• EDA gene
• EDAR gene
• EDARADD gene
• Hypohidrotic ectodermal dysplasia
• TCF4 gene

November 13, 2018

• 47,XYY syndrome
• HNF1B gene
• PAX2 gene
• Proximal 18q deletion syndrome

November 6, 2018

• APOE gene
• Dementia with Lewy bodies
• GBA gene
• SNCA gene
• SNCB gene
• Sturge-Weber syndrome

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

October 16, 2018

• Core binding factor acute myeloid leukemia

October 2, 2018

• Klinefelter syndrome
• X chromosome

September 25, 2018

• Lennox-Gastaut syndrome

September 11, 2018

• Chromosome 2
• Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
• CTNNB1 gene
• CYP2C9 gene
• DCX gene
• Diamond-Blackfan anemia
• H19 gene
• Hereditary myopathy with early respiratory failure
• IGF2 gene
• PAFAH1B1 gene
• RPL5 gene
• RPL11 gene
• RPL35A gene
• RPS10 gene
• RPS17 gene
• RPS19 gene
• RPS24 gene
• RPS26 gene
• TTN gene
• VKORC1 gene
• Warfarin resistance
• Warfarin sensitivity
• WT1 gene

August 28, 2018

• Factor XI deficiency

August 21, 2018

• Chylomicron retention disease
• Deafness-dystonia-optic neuronopathy syndrome
• SAR1B gene
• TIMM8A gene

August 14, 2018

• ABCC2 gene
• Dubin-Johnson syndrome
• SLC2A9 gene

August 7, 2018

• ADA2 gene
• Adenosine deaminase 2 deficiency
• BRAF gene
• CDKN2A gene
• MC1R gene

July 17, 2018

• 3MC syndrome
• COLEC11 gene
• MASP1 gene

July 10, 2018

• ASXL1 gene
• Bohring-Opitz syndrome

July 3, 2018

• ANKH gene
• APTX gene
• Ataxia with oculomotor apraxia
• Craniometaphyseal dysplasia
• GJA1 gene
• SETX gene

June 26, 2018

• 3-M syndrome
• Chromosome 13
• CUL7 gene
• Cytochrome c oxidase deficiency
• Feingold syndrome
• Mitochondrial DNA
• MYCN gene

June 12, 2018

• POGZ gene

June 5, 2018

• Dupuytren contracture
• Narcolepsy
• Noonan syndrome

May 22, 2018

• DYNC1H1 gene
• GLRA1 gene
• Hereditary hyperekplexia
• Mannose-binding lectin deficiency
• Restless legs syndrome

May 15, 2018

• 17-beta hydroxysteroid dehydrogenase 3 deficiency
• LMNA gene
• Marfan syndrome

May 8, 2018

• Buschke-Ollendorff syndrome
• EDN3 gene
• EDNRB gene
• Hirschsprung disease
• LEMD3 gene
• MAP2K1 gene
• RET gene
• SMARCA4 gene
• SMARCB1 gene

May 1, 2018

• Spondylocarpotarsal synostosis syndrome

April 11, 2018

• DOORS syndrome
• Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
• VCP gene

April 3, 2018

• Andersen-Tawil syndrome
• KCNJ2 gene

March 27, 2018

• CLN1 disease
• FGFR3 gene
• Muenke syndrome
• WAS gene
• Wiskott-Aldrich syndrome

March 20, 2018

• Cone-rod dystrophy

March 6, 2018

• Hypophosphatasia
• X-linked cardiac valvular dysplasia
• X-linked thrombocytopenia

February 27, 2018

• 47,XYY syndrome
• Hereditary leiomyomatosis and renal cell cancer
• Microcephalic osteodysplastic primordial dwarfism type II

February 20, 2018

• Abetalipoproteinemia
• Arrhythmogenic right ventricular cardiomyopathy
• Epidermolysis bullosa with pyloric atresia
• MTTP gene
• Oculopharyngeal muscular dystrophy
• PABPN1 gene
• PCCA gene
• PCCB gene
• PKP2 gene
• Propionic acidemia
• Schizophrenia