Global Variome shared LOVD

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Phenotype #0000348330 Individual ID 00460608 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite SIHIWES Phenotype details see paper; ..., motor delay, 2y-walk; speech delay; hypotonia; dyslexia, visual processing disorder; conductive hearing loss; hypernasal voice; no hand anomalies; undescended testis, micropenis; hypogonadotrophic hypogonadism; growth hormone deficiency; genu varum; MRI brain enlarged ventricles and increased white matter volume, thin corpus callosum; ECG normal; falx calcification, sparse hair, gastro-esophageal reflux Inheritance Isolated (sporadic) Age/Examination 10y (10 years) 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 2025-01-28 15:50:33 +01:00 (CET) Date last edited N/A

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