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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