Phenotype #0000337118

Individual ID 00447926
Associated disease CSS
Diagnosis/Initial Coffin-Siris Syndrome
Diagnosis/Definite CSS6
Phenotype details see paper; ..., birth 38w, weight 2.5 kg (10th–25th%), length 47.5 cm (25th–50th%); feeding difficulties, GE reflux, IBS; congenital heart disease, mitral thickening; autism, ADHD; 20m-walk; 18m-first words; strabismus; no hearing loss; tonsillectomy/adenoidectomy; no short stature; no growth hormone supplementation; 5th digit anomalies;
Inheritance Unknown
Age/Examination 12y (12 years)
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 2024-02-01 16:08:19 +01:00 (CET)
Date last edited N/A

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