Global Variome shared LOVD

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Phenotype #0000210495 Individual ID 00275896 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite SNIBCPS Phenotype details global developmental delay; fine motor delay; first words-2y; speech complete sentences; received speech/language therapy; language production and reception impaired; Mild intellectual disability (IQ 58); PDD-NOS; no ADHD/ADD; Flapping, hyperactive and claiming behaviour. Stereotypic movements; normal weight; normal height; no macrocephaly, no microcephaly; MRI-brain widening of CSF spaces; wide CSF spaces; hypotonia; neonatal convulsions; abnormal gait; broad forehead, frontal bossing; widely spaced eyes; taurodontia, delayed changing into adult dentition; normal palate; neonatal feeding problems; cerebral visual impairment, nystagmus, strabism, hypermetropia; normal hearing; normal heart; normal kidneys; no hernias; joint hyperlaxity; drooling until 8y, high pain treshold, sleeping problems. V-shaped sacral crease Inheritance Isolated (sporadic) Age/Examination 11y (11 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 2020-01-20 21:55:37 +01:00 (CET) Date last edited N/A

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