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ENChops Syndrome (CHOPS)
Alias:
Cognitive Impairment - Coarse Facies - Heart Defects - Obesity - Pulmonary Involvement - Short Stature - Skeletal Dysplasia Syndrome
Cognitive Impairment, Coarse Facies, Heart Defects, Obesity, Pulmonary Involvement, Short Stature, and Skeletal Dysplasia
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Chops
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-S
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Chops Syndrome, also known as cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome, is related to hepatitis e and cornelia de lange syndrome 1. An important gene associated with Chops Syndrome is AFF4 (ALF Transcription Elongation Factor 4). Affiliated tissues include heart and lung, and related phenotypes are intellectual disability and global developmental delay
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MALACARDS
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