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C HPO: C ] [HPO: C , C HPO: FILS syndrome is characterized by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, immunodeficiency resulting in recurrent infections, and short stature summary by Pachlopnik Schmid et al. Pachlopnik Schmid et al.
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Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) is a rare disorder that affects several parts of the body. It is characterized by a clouding of . Here we presented dysmorphic facial features and other clinical characteristics in two patients with PEX1 gene mutation. Follow-up periods were years and 1.
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A dysmorphic feature is a difference of body structure.
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C HPO: C , C HPO: C ] [HPO: MFRG is an autosomal recessive syndrome in which microcephaly, unilateral renal agenesis, ambiguous genitalia, and facial dysmorphisms, including severe micrognathia, are observed in most patients.
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