Phenotype #0000337116

Individual ID 00447924
Associated disease CSS
Diagnosis/Initial Coffin-Siris Syndrome
Diagnosis/Definite CSS6
Phenotype details see paper; ..., weight 3.1 kg,; feeding difficulties, GE reflux, on thickened feeds (resolved); no congenital heart disease; hypotonia; MRI brain normal; ADHD; 30m-walk; 54m-first words; strabismus; astigmatism; laryngomalacia; no cleft lip/palate; tracheomalacia, tympanostomy tubes; hip dysplasia; torticollis, plagiocephaly; short stature (9y-<1%);
Inheritance Unknown
Age/Examination 8y6m (8 years, 6 months)
Age/Diagnosis 5y3m
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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