Phenotype #0000337119

Individual ID 00447927
Associated disease CSS
Diagnosis/Initial Coffin-Siris Syndrome
Diagnosis/Definite CSS6
Phenotype details see paper; ..., twin gestation, IVF, birth 34w, weight 1.93 kg (25th–50th%),; no congenital heart disease; no seizures; MRI brain cerebellar vermian hypoplasia, mild generalized ventricular and CSF space prominence; cerebral palsy; ADHD; 27m-walk; >3y-first words; mild intellectual disability; strabismus, alternating exotropia; conversion insufficiency, palsy binocular eye movement; no hearing loss; no laryngomalacia; no cleft lip/palate; no tonsillectomy/adenoidectomy; no hip dysplasia; no scoliosis; no short stature; no growth hormone supplementation; no 5th digit anomalies; umbilical hernia, lateralized overgrowth
Inheritance Isolated (sporadic)
Age/Examination 16y (16 years)
Age/Diagnosis 15y
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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