Global Variome shared LOVD

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Phenotype #0000343501 Individual ID 00454894 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite RENU Phenotype details see paper; ..., no intra-uterine growth retardation; short stature; microcephaly, aquired; severe global developmental delay; non-ambulatory; no speech; intellectual disability; behavioral issues; some head tapping. abn breathing pattern at times, likes to chew fingers/clothes, some head tapping, less hypersensitive since older; hypotonia; seizures; MRI brain abnormal, 13m-showed widened extracerebral CSF spaces 'gross cerebral underdevelopment'. 4y moderately severe generalised cerebral atrophy with no evidence of a neuronal migration disorder. Inheritance Isolated (sporadic) Age/Examination 19y (19 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 2024-09-30 10:26:47 +02:00 (CEST) Date last edited N/A

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