Phenotype #0000352037

Individual ID 00466674
Associated disease IFAP
Diagnosis/Initial IFAP syndrome
Diagnosis/Definite IFAP1
Phenotype details see paper; ..., collodion baby, congenital hypothyroidism, cutaneous signs present since birth; spiny hyperkeratotic papules on scalp, ears, cheeks, elbows, and knees; periungual erythema on hands, generalized alopecia, photophobia; facial dysmorphism, atopic dermatitis-like lesions, plantar keratoderma
Inheritance Unknown
Age/Examination 01y06m (1 year, 6 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-09-22 19:21:25 +02:00 (CEST)
Date last edited N/A

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