Phenotype #0000187366

Individual ID 00248372
Associated disease NDD
Diagnosis/Initial Cornelia de Lange syndrome
Diagnosis/Definite CHOPS
Phenotype details round face, hair appears thick and coarse, eyes showed long eyelashes and thick eyebrows, synophyrys; developmental delay; low lying conus with lipoma of the filum terminale; Hyperreflexia; no hearing loss; no cataract; chronic lung disease (due to recurrent aspiration?); no tracheostomy; Sleep apnea; Asthma, history of pneumonia; PDA with repair; pulmonary hypertension; Delayed gastric emptying; constipation; no gastrostomy tube; splenomegaly by abd MRI; reflux; Horseshoe kidney; brachydactyly; Abnormal shape of vertebral bodies with decreased height most pronounced from T8 to L1. ; no microcephaly; 14y-OFC 25th percentile, weight <3rd percentile, height <3rd percentile; obesity; short stature; no immunodeficiency
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2019-07-22 21:05:19 +02:00 (CEST)
Date last edited 2019-07-22 21:12:53 +02:00 (CEST)

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