Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000243404 Individual ID 00324908 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth 42w; weight mildly obeseSD), length 168cm (-0.5SD), OFC 57cm (+1SD); intellectual disability (IQ 58); motor developmental delay; 18m-walk; impaired speech development; no muscular hypotonia; autistic features; mildly prominent ventricles and liquor spaces; no gait abnormalities; seizures; no strabism; no visual impairment; agressive behaviour; no abnormal respirations; no myopia/hyperopia; no hearing impairment; no epicanthic folds; no thin upper lip; malocclusion of teeth; no frontal bossing; no open mouth appearance; deep set eyes; upslanting palpebral fissures; no congenital anomalies of the skull; no helix anomalies; no broad nasal bridge; no neonatal feeding difficulties; right foot postaxial polydactyly, mild syndactyly dig II-III and syndactyly dig IV-V, short fifth toe, left foot syndactyly toes II-III .; no gastroesophageal reflux; no heart anomalies Inheritance Isolated (sporadic) Age/Examination 22y (22 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 2020-12-24 16:46:49 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.