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Describes rare forms of diabetes that result from mutations in a single gene. Discusses diagnosis, genetic testing, and counseling.

El tartamudeo es un trastorno del habla en el que se repiten los sonidos, las sílabas o las palabras; se prolongan los sonidos; y se tienen interrupciones del habla conocidas como “bloqueos”.

El síndrome de Pendred es un trastorno genético que causa la pérdida de audición temprana en los niños. También puede afectar la glándula tiroides y a veces crea problemas de equilibrio.

Los acueductos vestibulares son conductos estrechos de huesos que van desde el oído interno hasta muy adentro del interior del cráneo

A vestibular schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the balance and hearing nerves supplying the inner ear. The tumor comes from an overproduction of Schwann cells—the cells that normally wrap around nerve fibers like onion skin to help support and insulate nerves.

Pendred syndrome is a genetic disorder that causes early hearing loss in children. It also can affect the thyroid gland and sometimes creates problems with balance.

A fact sheet about the BRCA1 and BRCA2 genes, what to do if a person tests positive for alterations in one of these genes, and consequences of genetic testing.

Genetics of Kidney Cancer (Renal Cell) includes the hereditary cancer syndromes von Hippel-Lindau disease, hereditary leiomyomatosis and renal cell cancer, Birt-Hogg-Dubé syndrome, and hereditary papillary renal carcinoma. Get comprehensive information on these syndromes in this clinician summary.

Levels of Evidence for Cancer Genetics Studies addresses the process and challenges of developing evidence-based summaries. Get information about how to weigh the strength of the evidence from cancer genetics studies in this summary for clinicians.

Cancer Genetics Overview discusses hereditary cancers and the role of genetic variants (mutations). Get information about genetic counseling, familial cancer syndromes, genomic sequencing, germline and somatic testing, ethical and legal issues and more in this summary for clinicians.