Global Variome shared LOVD

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Phenotype #0000092184 Individual ID 00116663 Associated disease IFAP1 Phenotype details IFAP triad; reduced sweating, normal nails and teeth, marked ichthyosis over pressure areas, extensor surfaces of limbs, buttock cleft; poor vision, myopia; severe photophobia, corneal scars; hoarse voice with vocal nodules; psychomotor development normal; height and weight <0.4th centile, OFC 9-25th centile; IFAP syndrome Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Karl-Heinz Grzeschik Database submission license No license selected Created by Karl-Heinz Grzeschik Date created 2012-11-27 20:58:34 +01:00 (CET) Date last edited N/A

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