Global Variome shared LOVD

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Phenotype #0000352208 Individual ID 00466845 Associated disease IFAP Diagnosis/Initial IFAP syndrome Diagnosis/Definite IFAP1 Phenotype details see paper; ..., 35w-birth, severe intrauterine growth failure, hydrocephaly, posterior meningocele; 3y-diffuse xerosis, persistent follicular keratosis scalp, corkscrew-like hair, delayed occipital development, severe global developmental delay, inability to walk, measurements below SD weight/height/OFC, able to sit/babble/engage in positive social interactions, MRI brain dysgenesis corpus callosum Inheritance Familial, X-linked recessive Age/Examination 03y (3 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 2025-09-24 09:18:45 +02:00 (CEST) Date last edited N/A

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