X-linked Intellectual Disability With Or Without Nystagmus
What's New
Last Posted: Oct 06, 2022
- Comprehensive Analysis of Fragile X Syndrome: Full Characterization of the FMR1 Locus by Long-Read Sequencing.
Liang Qiaowei et al. Clinical chemistry 2022 - Challenges in molecular diagnosis of X-linked Intellectual disability.
De Luca Chiara et al. British medical bulletin 2020 Feb - X-linked intellectual disability update 2017.
Neri Giovanni et al. American journal of medical genetics. Part A 2018 176(6) 1375-1388 - Alpha-thalassemia x-linked intellectual disability syndrome
From NCATS Genetic and Rare Diseases Information Center - Severe X-linked intellectual disability, Gustavson type
From NCATS Genetic and Rare Diseases Information Center - X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis
From NCATS Genetic and Rare Diseases Information Center - X-linked intellectual disability - short stature – obesity
From NCATS Genetic and Rare Diseases Information Center - X-linked intellectual disability with or without nystagmus
From NCATS Genetic and Rare Diseases Information Center - X-linked intellectual disability, Abidi type
From NCATS Genetic and Rare Diseases Information Center - X-linked intellectual disability, Najm type
From NCATS Genetic and Rare Diseases Information Center
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Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
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
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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