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Download Ectodermal Dysplasia Without A Known Gene Mutation
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Ectodermal dysplasia without a known gene mutation Name: Date of Birth: MRN Number: Family Number: Phenotype Description Phenotype Present Unknown Yes No Ectodermal dysplasia Dry skin Hypopigmentation of the skin Hyperpigmentation of the skin Periorbital wrinkles Fragile skin Palmoplantar hyperkeratosis Hypohidrosis Hyperhidrosis Heat intolerance Nail dysplasia Anonychia Hypodontia Abnormality of dental morphology Hypoplasia of dental enamel Sparse hair Abnormality of hair texture Aplasia/Hypoplasia of the nipples Ectrodactyly Camptodactyly Syndactyly Photophobia Ankyloblepharon Lacrimal duct atresia Bifid uvula Cleft palate Cleft upper lip Conductive hearing impairment Sensorineural hearing impairment Global developmental delay Intellectual disability Abnormal nasal morphology External ear malformation Abnormal external genitalia Recurrent infections Ectodermal dysplasia without a known gene mutation Cont. Phenotype Description Phenotype Present Unknown Yes No Immunodeficiency Neoplasm of the skin Microcephaly ADDITIONAL PHENOTYPING Phenotype Description Phenotype Present Unknown Yes No
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