Global Variome shared LOVD

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

Phenotype #0000141989 Individual ID 00179503 Associated disease CDLS Phenotype details speech >4y; facial features; intrauterine growth retardation; no lower limb defects; no upper limb defects; severe intellectual disability; milestones in motor development delayed, sit >20m, walk >42m; weight, height and head circumference 50th–95th centile; facial dysmorphism (like CdLS), arched eyebrows, thin vermillion (upper lip), cleft palate; neurosensory hearing loss; astigmatism; corneal ulcers; needed assisted feeding 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 13:05:04 +02:00 (CEST) Date last edited 2020-06-05 09:34:29 +02:00 (CEST)

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