Genetics Home Reference - NIH

Genetics Home Reference - NIH

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November 26, 2019

• TUBB2B gene
• TUBB3 gene

October 15, 2019

• Au-Kline syndrome
• HNRNPK gene

October 1, 2019

• 10q26 deletion syndrome

September 10, 2019

• PLCG2-associated antibody deficiency and immune dysregulation
• PLCG2 gene

September 3, 2019

• PGM3-congenital disorder of glycosylation
• PGM3 gene

August 20, 2019

• SETBP1 disorder
• ZNF341 gene

July 9, 2019

• Attention-deficit/hyperactivity disorder
• Dystonia 16
• PRKRA gene

June 11, 2019

• MED13L gene

May 28, 2019

• MED13L syndrome

April 30, 2019

• Isolated congenital asplenia
• RPSA gene

April 2, 2019

• Cerebro-facio-thoracic dysplasia
• TMCO1 gene

March 19, 2019

• Orthostatic hypotension
• Rigid spine muscular dystrophy
• Wiedemann-Rautenstrauch syndrome

March 12, 2019

• Hyaline fibromatosis syndrome

March 5, 2019

• PACS1 gene
• PACS1 syndrome

February 26, 2019

• DARS1 gene
• Hypomyelination with brainstem and spinal cord involvement and leg spasticity

February 19, 2019

• AHDC1 gene
• Xia-Gibbs syndrome

February 12, 2019

• Autosomal dominant optic atrophy and cataract

February 5, 2019

• ITPR1 gene

January 29, 2019

• MTOR gene
• Smith-Kingsmore syndrome

January 15, 2019

• Hypertension
• Kidney stones

January 8, 2019

• Migraine