Global Variome shared LOVD

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Phenotype #0000230338 Individual ID 00303254 Associated disease IFAP Diagnosis/Initial IFAP syndrome Diagnosis/Definite - Phenotype details extensive non-scarring atrichia of the temporal and parietal scalp; sparse short (<2 cm), black hairs preserved over the vertex and occiput; diffuse hypotrichosis of eyebrows and eyelids; ichthyosis follicularis with psoriaform plaques involving upper and lower extremities and scalp; widespread thorn-like punctate follicular projections; angular chelitis; photophobia, severe Meibomian gland dysfunction, corneal pannus, amblyopia Inheritance Isolated (sporadic) Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-06-08 19:48:29 +02:00 (CEST) Date last edited N/A

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