15q11.2 Microdeletion
What's New
Last Posted: Mar 08, 2023
- Rare missense TUBGCP5 gene variant in a patient with primary microcephaly.
Maver Aleš, et al. European journal of medical genetics 2018 0 (12) 103598 - Cyfip1 Haploinsufficiency Does Not Alter GABA Receptor d-Subunit Expression and Tonic Inhibition in Dentate Gyrus PV Interneurons and Granule Cells.
Trent Simon, et al. eNeuro 2019 6 - SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia.
Stark Zornitza, et al. American journal of medical genetics. Part A 2015 10 (10) 2319-26 - 15q11.2 microdeletion
From NCATS Genetic and Rare Diseases Information Center
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2024
- Page last updated:May 01, 2024
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