Global Variome shared LOVD

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

Phenotype #0000141986 Individual ID 00179500 Associated disease CDLS Phenotype details speech >4y; facial features; intrauterine growth retardation; lower limb defects small feet only; upper limb defects small hands only; Moderate intellectual disability (IQ:35-50); sit 9m-20m; walking 18m-42m Diagnosis/Initial Cornelia de Lange syndrome Inheritance Isolated (sporadic) Diagnosis/Definite CDLS-2 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Bert Redeker Database submission license No license selected Created by Bert Redeker Date created 2014-06-27 11:43:38 +02:00 (CEST) Date last edited 2014-06-27 13:48:03 +02:00 (CEST)

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