Phenotype #0000337107

Individual ID 00447915
Associated disease CSS
Diagnosis/Initial Coffin-Siris Syndrome
Diagnosis/Definite CSS6
Phenotype details see paper; ..., polyhydramnios, birth 39w+3, weight 3.3 kg (25th–50th%), length 48.3 cm (25th%); feeding difficulties, tube feeding (discontinued); no congenital heart disease; hypotonia; no seizures; MRI brain normal; autism; 18m-walk; 12m-first words; myopia; tympanostomy tubes; no cleft lip/palate; hip dysplasia; short stature (6y5m-2%); growth hormone supplementation; clinodactyly;
Inheritance Isolated (sporadic)
Age/Examination 8y (8 years)
Age/Diagnosis 2y4m
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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