Phenotype #0000092160

Individual ID 00116640
Associated disease -
Phenotype details IFAP triad and follicular hyperkeratosis present from infancy; no hair or eyelashes; corneal ulceration; poor teeth (? caries), poor nails (? chronic fungal infection); mild global developmental delay, generalised seizures, strabismus, macrocephaly (>90th centile) and frontal bossing; IFAP syndrome
Diagnosis/Initial -
Inheritance Familial, X-linked dominant, male sparing
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