Phenotype #0000337110

Individual ID 00447918
Associated disease CSS
Diagnosis/Initial Coffin-Siris Syndrome
Diagnosis/Definite CSS6
Phenotype details see paper; ..., no prenatal findings, birth 38w+5, weight 3.04 kg (~45th%), length 47.6 cm (25th–50th%); feeding difficulties, no tube feeding; no seizures; MRI brain ectopic posterior pituitary; ADHD; 18m-walk; 12m-first words; mild intellectual disability; amblyopia; astigmatism; conductive hearing loss; tympanostomy tubes; no cleft lip/palate; genitourinary reflux, misplaced ureter; growth hormone supplementation;
Inheritance Unknown
Age/Examination 15y6m (15 years, 6 months)
Age/Diagnosis 11y3m
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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