Global Variome shared LOVD

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Phenotype #0000304345 Individual ID 00412340 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details last assessment early adolescence; height -2.25 SD, OFC -1.57 SD; no microcephaly; short stature; walking not yet achieved; intellectual disability; developmental delay; delayed speech, limited language ability; no seizures/epilepsy, staring spells with loss of awarness concerning for absence seizures; hypotonia; normal joints; normal movement; cortical visual impairment; normal hearing; no dysmorphism; Infrequent bowel movements and constipation; no autism spectrum disorder, autistic features (no formal diagnosis); failure to thrive; insomnia; no skeletal abnormalities; MRI brain normal as toddler and in early childhood, in middle childhood there was minimal parietal periventricular white matter volume loss with nonspecific, but abnormal T2-FLAIR hyperintensities; Sedated EEG in middle childhood: Right central-parietal-temporal slowing suggesting a focal cerebral dysfunction in that region, EEG during infancy was normal; Inheritance Isolated (sporadic) 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 2022-06-27 19:18:04 +02:00 (CEST) Date last edited N/A

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