Phenotype #0000142009

Individual ID 00179525
Associated disease CDLS
Phenotype details typical facial dysmorphisms (microbrachycephaly, arched eye brows, synophrys, ptosis, long philtrum, low posterior hairline, short neck), single palmar creases, hirsutism, mental retardation, seizures, growth retardation (height and weight below 3rd centiles); small hands, no structural limb abnormalities, severe form megacolon
Diagnosis/Initial Cornelia de Lange syndrome
Inheritance Familial
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2010-04-02 14:18:40 +02:00 (CEST)
Date last edited 2010-04-02 14:20:13 +02:00 (CEST)

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