Global Variome shared LOVD

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Phenotype #0000352023 Individual ID 00466659 Associated disease KFSD Diagnosis/Initial keratosis follicularis spinulosa decalvans Diagnosis/Definite KFSDX Phenotype details see paper; ..., normal birth, low birth weight (2,700g), small placenta, thin maternal cord; erythroderma, collodion membrane, scaling skin, facial erythema, hypohidrosis, non-cicatricial alopecia totalis, absent eyelashes, photophobia; 11m-non-specific febrile seizures, generalized hypohidrosis Inheritance Isolated (sporadic) Age/Examination 00y11m (11 months) 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 2025-09-19 10:26:31 +02:00 (CEST) Date last edited N/A

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