Phenotype #0000337111

Individual ID 00447919
Associated disease CSS
Diagnosis/Initial Coffin-Siris Syndrome
Diagnosis/Definite CSS6
Phenotype details see paper; ..., no prenatal findings, birth 39w, weight 3.1 kg (25th–50th%), length 48.5 cm (50th%); feeding difficulties; hypotonia; no seizures; nystagmus, amblyopia; sensorineuronal hearing loss; no cleft lip/palate; prescribed AFOs; torticollis;
Inheritance Isolated (sporadic)
Age/Examination 9y6m (9 years, 6 months)
Age/Diagnosis 4y6m
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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