Global Variome shared LOVD

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Phenotype #0000272312 Individual ID 00377148 Associated disease CSS6 Diagnosis/Initial - Diagnosis/Definite - Phenotype details Abnormality of body height, Abnormality of the face, Downslanted palpebral fissures, Global developmental delay, Growth delay, Abnormal foot morphology, Pes cavus, Abnormal facial shape, Curly hair, Short stature, Abnormality of hair texture, Abnormality of higher mental function, Thyrotoxicosis with diffuse goiter, Neurodevelopmental delay, Cognitive impairment, Graves disease, Slanting of the palpebral fissure Inheritance Isolated (sporadic) Age/Examination 12y (12 years) Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2021-07-12 13:40:59 +02:00 (CEST) Date last edited 2021-07-21 14:26:18 +02:00 (CEST)

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