Phenotype #0000337115

Individual ID 00447923
Associated disease CSS
Diagnosis/Initial Coffin-Siris Syndrome
Diagnosis/Definite CSS6
Phenotype details see paper; ..., birth 41w, weight 3.5 kg (50th–75th%),; feeding difficulties, gastritis, failure to thrive, constipation; no congenital heart disease; no seizures; MRI brain increased T2 signal periatrial regions, thin posterior corpus callosum (?PVL); ADHD; 19m-walk; 3y-first words; mild intellectual disability; strabismus; no hearing loss; no cleft lip/palate; prescribed AFOs; torticollis; short stature (32m-25%); sacral dimple
Inheritance Unknown
Age/Examination 6y (6 years)
Age/Diagnosis 2y6m
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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