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  2. CDK13-related disorder - Wikipedia

    en.wikipedia.org/wiki/CDK13-related_disorder

    CDK13-related disorder, also known as congenital heart defects, dysmorphic facial features and intellectual developmental disorder (CHDFIDD), is a very rare autosomal dominant genetic condition characterised by congenital heart defects, intellectual disability and characteristic facial features.

  3. Timothy syndrome - Wikipedia

    en.wikipedia.org/wiki/Timothy_syndrome

    The most striking sign of Timothy syndrome type 1 is the co-occurrence of both syndactyly (about 0.03% of births) and long QT syndrome (1% per year) in a single patient. . Other common symptoms include cardiac arrhythmia (94%), heart malformations (59%), and autism or an autism spectrum disorder (80% who survive long enough for evaluati

  4. Wendy Chung - Wikipedia

    en.wikipedia.org/wiki/Wendy_Chung

    Chung's areas of expertise include newborn screening, rare genetic neurodevelopment disorders, autism, clinical genetics, developmental disorder, precision medicine, congenital anomaliess, breast cancer, cancer genetics, cardiomyopathy, esophageal atresia/tracheo esophageal atresia, congenital diaphragmatic hernia, congenital heart disease ...

  5. DiGeorge syndrome - Wikipedia

    en.wikipedia.org/wiki/DiGeorge_syndrome

    DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. [7] While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental disability, intellectual disability and cleft palate. [7]

  6. Congenital heart defect - Wikipedia

    en.wikipedia.org/wiki/Congenital_heart_defect

    Most congenital heart defects are not associated with other diseases. [3] A complication of CHD is heart failure. [2] Congenital heart defects are the most common birth defect. [3] [11] In 2015, they were present in 48.9 million people globally. [8] They affect between 4 and 75 per 1,000 live births, depending upon how they are diagnosed.

  7. Fetal valproate spectrum disorder - Wikipedia

    en.wikipedia.org/wiki/Fetal_Valproate_Spectrum...

    [11] [12] [13] Maternal valproate use during pregnancy increased the probability of autism in the offspring compared to mothers not taking valproate from 1.5% to 4.4%. [14] A 2005 study found rates of autism among children exposed to sodium valproate before birth in the cohort studied were 8.9%. [15]

  8. Tetralogy of Fallot - Wikipedia

    en.wikipedia.org/wiki/Tetralogy_of_Fallot

    Atrioventricular septal defect (AVSD) is an uncommon congenital heart condition characterized by faulty development of the heart's septa and valves. [88] [12] Congestive heart failure is common in infants with the entire version of the condition. [88] [12] Fluid builds up in other parts of the body, particularly the lungs.

  9. List of congenital disorders - Wikipedia

    en.wikipedia.org/wiki/List_of_congenital_disorders

    Heart disorders (Congenital heart defects) Hemifacial microsomia; Holoprosencephaly; Huntington's disease; Hirschsprung's disease, or congenital aganglionic megacolon; Hypertrichosis; Hypoglossia; Hypomelanism or hypomelanosis (albinism) Hypospadias; Haemophilia; Heterochromia; Hemochromatosis