Global Variome shared LOVD

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Phenotype #0000311167 Individual ID 00419898 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth 41w; IUGR; poor growth during childhood (4-9y growth hormone treatment); hypotonia; global developmental delay; no gross motor delay; 12m-walk; speech delay, 14m-first words; mild intellectual disability, WISC-III, total IQ47; verbal comprehension index 59, performance reasoning index 46; behavioral problems; hyperactivity/ADHD; no anxiety; no microcephaly; MRI brain normal; febrile and absence seizures; EEG epileptic anomalies on parieto-temporal regions; no myopia; no strabismus; normal hearing; broad forehead, deep-set eyes, thick eyebrows; bilateral short 5th toe; no ventricular septal defect; no atrial septal defect; no patent foramen; no vascular anomalies; no gastrointestinal findings; no genitourinary findings 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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