Global Variome shared LOVD

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Phenotype #0000311159 Individual ID 00419890 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite CSS10 Phenotype details birth 40w0d; no IUGR; poor weight gain as child; dysphagia; hypotonia; global developmental delay; gross motor delay; fine motor delay; 6m-sit; 17m-walk; speech delay, 24m-first words; borderline intellectual disability IQ~75; behavioral problems; hyperactivity/ADHD; anxiety; difficulty with rules; no seizures; myopia; strabismus; normal hearing; wide mouth with cupid’s bow, prominent ears; bilateral 5th finger clinodactyly; no ventricular septal defect; no atrial septal defect; no patent foramen; no vascular anomalies; no gastrointestinal findings; nocturnal enuresis; mild obstructive sleep apnea during childhood Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-10-24 18:06:51 +02:00 (CEST) Date last edited N/A

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