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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