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Impaired intellectual development distinctive facial features with cardiac defects
- ... MED13L deficiency National Organization for Rare Disorders (NORD) IMPAIRED INTELLECTUAL DEVELOPMENT AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD PubMed Asadollahi R, Oneda B, Sheth F, ...
- ... and autism spectrum disorder, which is characterized by impaired communication and ... and delayed development of speech and motor skills such as sitting ...
- ... face (facio) and torso (thoracic). The problems with development lead to the key features of cerebro-facio-thoracic dysplasia, which include severe intellectual disability, distinctive facial features, and abnormalities of the ribs and spinal bones (vertebrae).In ...
- ... body. Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects.Children with Mowat-Wilson syndrome have a square- ...
- ... Additional features of this form include abnormal bone development (dysostosis multiplex) and distinctive facial features that are often described as "coarse." Some infants have an enlarged heart (cardiomegaly), an eye abnormality called a cherry-red spot, and kidney disease ...
- ... Additional features of Bardet-Biedl syndrome can include impaired speech, delayed ... dental abnormalities, unusually short or fused fingers or toes, and ...
- ... a condition characterized by intellectual disability, developmental delay, ... have delayed development of motor skills, such as crawling or walking, ...
- ... an inherited condition that is characterized by eye abnormalities, short stature, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), distinctive facial features, and intellectual disability.The eye problems in Peters plus syndrome ...
- ... with this condition include unusual facial features, skeletal abnormalities, and intellectual disability.A characteristic feature of KBG syndrome is unusually large upper front teeth (macrodontia). Other distinctive facial features include a wide, short skull (brachycephaly), a ...
- ... In addition, affected individuals have moderate to severe intellectual ... such as heart rate, digestion, and breathing, result in several features ...
