User Posts: Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
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Cardiac Diverticulum
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A cardiac diverticulum is a small pouch that grows out from a heart chamber wall—most often the left ventricle. It is usually congenital (present from birth). ...

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Ankyrin-B Syndrome (ANK2-Related Cardiac Arrhythmia)
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Ankyrin-B syndrome is a rare, inherited heart-rhythm disorder caused by harmful changes (variants) in the ANK2 gene. ANK2 makes a protein called ankyrin-B. ...

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Ankyrin-B–Related Cardiac Arrhythmia
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Ankyrin-B–related cardiac arrhythmia is a rare, inherited heart-rhythm disease caused by changes (variants) in the ANK2 gene. This gene makes a scaffolding ...

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Cardiac Anomalies—Heterotaxy Syndrome
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Cardiac anomalies–heterotaxy syndrome (also called situs ambiguus) means the chest and belly organs did not line up in the usual left-right way during early ...

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MED13L-Related Intellectual Disability Syndrome (MED13L Syndrome)
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MED13L-related intellectual disability syndrome (MED13L syndrome) is a rare, genetic brain-development condition caused by changes in a single gene called ...

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Impaired Intellectual Development and Distinctive Facial Features with or without Cardiac Defects
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Impaired intellectual development and distinctive facial features with or without cardiac defects is a genetic neurodevelopmental disorder. Children usually ...

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Developmental Delay–Facial Dysmorphism Syndrome due to MED13L Deficiency ( MED13L Syndrome)
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Developmental Delay–Facial Dysmorphism Syndrome due to MED13L Deficiency ( MED13L Syndrome) is a genetic neurodevelopmental disorder. It mainly causes global ...

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Cardiac Anomalies–Developmental Delay–Facial Dysmorphism Syndrome
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Cardiac anomalies–developmental delay–facial dysmorphism syndrome” is a rare genetic condition. Children with this condition often have heart problems that are ...

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Uterine Corpus Malignant Mixed Müllerian Tumor (MMMT)
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Uterine corpus malignant mixed Müllerian tumour (MMMT), also called uterine carcinosarcoma (UCS)— is a rare, fast-growing cancer that starts in the lining of ...

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Uterine Corpus Malignant Mixed Mesodermal (Müllerian) Tumor
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Uterine corpus malignant mixed mesodermal (Müllerian) tumor is a rare, very aggressive cancer that starts in the lining of the womb (the endometrium). It has ...

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Uterine Malignant Mixed Mesodermal Tumor
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Uterine carcinosarcoma is a rare, very aggressive cancer of the womb (uterus). It looks like a “mixed” tumor because it has two parts at the same time: a ...

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Mixed Müllerian Sarcoma of the Uterus
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Mixed Müllerian sarcoma of the uterus—better known today as uterine carcinosarcoma (UCS)—is a rare, aggressive cancer that starts in the womb (uterus). It ...

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Malignant Mixed Müllerian Tumor
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Malignant mixed Müllerian tumor of the corpus uteri is a very aggressive cancer that starts in the lining of the uterus (the endometrium). Doctors now most ...

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Malignant Mixed Mesodermal Tumor of the Uterine Corpus
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Malignant mixed mesodermal tumour of the uterine corpus is a rare, very aggressive cancer that starts in the lining of the uterus (the endometrium). It has two ...

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Malignant Mixed Mesodermal Tumor of the Uterus
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Malignant mixed mesodermal tumor of the uterus is a rare, fast-growing cancer that starts in the womb (uterus). It has two cancer parts mixed together in the ...

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Malignant Mixed Mesodermal Neoplasm of the Uterus
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Malignant Mixed Mesodermal Neoplasm of the Uterus is a rare, very aggressive cancer of the uterus that contains two parts in the same tumor: a cancer of the ...

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