Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000092541 Individual ID 00117294 Associated disease KDVS Phenotype details Intrauterine growth retardation; hypotonia; failure to thrive in infancy; abnormal hair texture; broad forehead; sparse eyebrows; upslanting palpebral fissures; epicanthal folds; pear-shaped nose; large nasal bridge; bulbous nasal tip; long philtrum; everted lower lip; large and/or prominent ears; broad chin; motor delay; mild intellectual disability; happy, friendly disposition; joint hyperextensibility; recurrent otitis Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 3y (3 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Giuseppe Marangi Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Gerard C.P. Schaafsma Date created 2012-05-31 14:37:29 +02:00 (CEST) Date last edited N/A

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