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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
Enfermedad de Menkes | Sobre la enfermedad | GARD La enfermedad de Menkes es causada por mutaciones en el gen ATP7A que resultan en un transporte anormal de cobre Cuando el transporte del cobre en las células intestinales se deteriora, los niveles de cobre en la sangre bajan
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
T-cell large granular lymphocyte leukemia | About the Disease | GARD T-cell large granular lymphocyte leukemia is a rare cancer of a type of white blood cells called lymphocytes T-cell large granular lymphocyte leukemia causes a slow increase in white blood cells called T lymphocytes, or T cells, which originate in the lymph system and bone marrow and help to fight infection This disease usually affects people in their sixties Symptoms include anemia; low
Diseases | GARD DiseasesBrowse 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
Cutis laxa, X-linked | About the Disease | GARD This condition is a milder form of Menkes disease, which affects copper levels in the body OHS is caused by genetic changes (DNA variants) in the ATP7A gene, and it is inherited in an x-linked recessive pattern It can be diagnosed based on the symptoms, genetic testing, and other blood tests
Contact Us | GARD Are you or someone you know looking for information about rare diseases? We invite patients, family members, caregivers, and others seeking information about rare diseases to contact GARD by leaving us a detailed voice message or through our contact form Our Information Specialists provide personalized responses that are easy to understand, free of charge, and confidential GARD Information
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