Global Variome shared LOVD

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Phenotype #0000092174 Individual ID 00116653 Associated disease IFAP1 Phenotype details Ichthyosis follicularis, noncicatricial universal alopecia, photophobia, madarosis, corneal vascularisation, hyperkeratotic psoriasis-like lesions, nail dystrophy; inguineal herniae; cryptorchidism; short statue; seizures; psychomotor developmental delay; bilateral absence of 4th fingers and camptodactyly; IFAP syndrome Diagnosis/Initial - Inheritance Familial 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 20:34:01 +01:00 (CET) Date last edited N/A

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