Global Variome shared LOVD

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Phenotype #0000199450 Individual ID 00260917 Associated disease DD Phenotype details developmental delay, microcephaly, hypotonia, cMRI: pachygyria, corpus callosum anomaly; 48m-assisted sitting; not walking; functional hand use; no speech; stereotypic movements; dyskinesia; hypotonia; no spasticity; strabism; no nystagmus; abnormal sleep patterns; social interaction; good eye contact; no unexplained episodes of crying; no seizures; no antiepileptic treatment; feeding difficulties; gastroesophageal reflux; no aspiration; constipation; hypersalivation; bruxism; no abnormal breathing patterns; kyphoscoliosis or scoliosis; corpus callosum anomalies; cortical anomalies Diagnosis/Initial developmental delay Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 8y4m (8 years, 4 months) Age/Diagnosis - 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 2019-08-09 15:48:35 +02:00 (CEST) Date last edited N/A

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