Phenotype #0000141984

Individual ID 00179498
Associated disease CDLS
Phenotype details intrauterine growth restriction (from 3rd month of pregnancy); 6y-weight, height and head circumference <3rd centile; frequent respiratory infections; severe gross motor delay, 4y-wheelchair, no speech; hypertrophic cardiomyopathy; synophrys; downslanting palpebral fissures, long curly eyelashes, thin vermilion (upper lip); hand and feet length <3rd centile; ptosis
Diagnosis/Initial Cornelia de Lange syndrome
Inheritance Isolated (sporadic)
Diagnosis/Definite CDLS2
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 2010-09-16 15:36:55 +02:00 (CEST)
Date last edited 2020-06-05 09:29:30 +02:00 (CEST)

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