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Enfermedad de Menkes | Sobre la enfermedad | GARD La enfermedad de Menkes es un trastorno que afecta a los niveles de cobre en el cuerpo Se caracteriza por cabello ralo y ensortijado; retraso del crecimiento; y deterioro progresivo del sistema nervioso
Zellweger spectrum disorders | About the Disease | GARD Zellweger syndrome is the most severe form of a spectrum of conditions called Zellweger spectrum The signs and symptoms of Zellweger syndrome typically appear during the newborn period and may include poor muscle tone (hypotonia), poor feeding, seizures, hearing loss, vision loss, distinctive facial features, and skeletal abnormalities Affected children also develop life-threatening problems
Diseases | GARD Diseases Browse by Disease Explore GARD's list of rare diseases Filter by category or search by disease name, acronym, or synonym Rare diseases found on GARD should not be used as policy statements of NCATS or the NIH
Muenke syndrome | About the Disease | GARD Muenke Syndrome is a condition characterized by the premature closure of the coronal suture of the skull (coronal craniosynostosis) during development This affects the shape of the head and face Other variable features include abnormalities of the hands or feet, hearing loss and developmental delay Muenke Syndrome is caused by genetic changes in the FGFR3 gene It is inherited in an
Chromosome 16p11. 2 duplication syndrome | About the Disease | GARD 16p11 2 duplication is a chromosomal change in which a small amount of genetic material within chromosome 16 is abnormally copied (duplicated) This duplication occurs in the short (p) arm of chromosome 16 at a position known as 11 2 Signs and symptoms can vary widely among affected individuals Some individuals have no symptoms while others may have features such as low weight; small head
Flat face-microstomia-ear anomaly syndrome Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned
About | GARD - Genetic and Rare Diseases Information Center What should you know about GARD? GARD is a program of the National Institutes of Health that provides free access to reliable, easy-to-understand information about genetic and rare diseases
Síndrome de Hennekam | Sobre la enfermedad | GARD El síndrome de Hennekam es una enfermedad hereditaria que resulta de malformación del sistema linfático que está compuesto por una red de vasos que transportan un líquido llamado linfa en todo el cuerpo La linfa contiene glóbulos blancos que protegen el cuerpo contra los gérmenes El sistema linfático elimina la infección y mantiene el equilibrio de los líquidos del cuerpo Si no
Aceruloplasminemia | About the Disease | GARD Aceruloplasminemia causes a build-up of iron in the brain and the organs of the body Symptoms begin in adulthood People with Aceruloplasminemia develop anemia, diabetes, and eye problems Over time, difficulty controlling movements may occur These include tremors, chorea, ataxia, eyelid twitching, and grimacing Some experience psychiatric problems and dementia An eye examination may