Global Variome shared LOVD

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Phenotype #0000092158 Individual ID 00116705 Associated disease IFAP1 Phenotype details congenital alopecia, photophobia, absent eyebrows and eyelashes (total atrichia). scaly plaques on scalp, extensor part extremities. spiny keratotic follicular papules abdomen and axillae. impaired vision. delayed bone age. MR; IFAP syndrome; intellectual disability; Ocular_changes Diagnosis/Initial - Inheritance Familial Diagnosis/Definite - Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset 01d Phenotype/Onset - Protein - Owner name Emmelien Aten Database submission license No license selected Created by Emmelien Aten Date created 2011-04-05 09:39:59 +02:00 (CEST) Date last edited N/A

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