Global Variome shared LOVD

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Phenotype #0000337106 Individual ID 00447914 Associated disease CSS Diagnosis/Initial Coffin-Siris Syndrome Diagnosis/Definite CSS6 Phenotype details see paper; ..., no prenatal findings, birth 39w, weight 3.062 kg (25%), length 50.8 cm (50%); feeding difficulties, tube feeding (discontinued), GE reflux; no congenital heart disease; no seizures; MRI brain intracranial white matter loss, areas of T2 hyperintensity and pallor within the supratentorial white matter; restless leg syndrome, hemiparetic cerebral palsy; autism; speech apraxia; intermittent exotropia; astigmatism; no hearing loss; tracheomalacia; laryngomalacia; no cleft lip/palate; tonsillectomy/adenoidectomy; obstructive sleep apnea (resolved); frequent fractures, normal bone density; short stature (7y4m-19th); no 5th digit anomalies; asthma, sacral dimple; 4y-hx of traumatic brain injury; iron deficiency anemia Inheritance Isolated (sporadic) Age/Examination 8y6m (8 years, 6 months) Age/Diagnosis 2y4m Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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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