Global Variome shared LOVD

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Phenotype #0000233136 Individual ID 00307401 Associated disease KDVS Phenotype details Caesarian section; hypotonia; poor sucking; epilepsy; TIA; developmental delay; facial hypotonia; broad nasal tip; prominent nasal bridge; microdontia; clinodactyly of the fifth finger on both hands; hypotonia of the lower limbs; hypermobility and endorotation of her feet. Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Alexander Dingemans Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Alexander Dingemans Date created 2020-08-12 16:21:36 +02:00 (CEST) Date last edited 2020-08-18 09:00:27 +02:00 (CEST)

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