Global Variome shared LOVD

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

Phenotype #0000243410 Individual ID 00324914 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth 38w, weight 2268g (-2.1SD), length 43cm (-3.2SD) ; weight 22kg (-1.2SD), length 124cm (-0.9SD), OFC 48.5cm (-3.0SD); intellectual disability; motor developmental delay; 26m-walk; impaired speech development; impaired receptive language; no muscular hypotonia; no autistic features; MRI cerebral normal; no gait abnormalities; attention deficit hyperactivity disorder; no seizures; strabism; no visual impairment; no agressive behaviour; no abnormal respirations; no myopia/hyperopia; no hearing impairment; no epicanthic folds; thin upper lip; misaligned and yellow teeth, large two central incisors; no frontal bossing; open mouth appearance; no deep set eyes; no upslanting palpebral fissures; no congenital anomalies of the skull; no helix anomalies; no broad nasal bridge; no neonatal feeding difficulties; 5th finger bilateral camptodactyly and clinodactyly; no gastroesophageal reflux; constipation, synophrys Inheritance Isolated (sporadic) Age/Examination 8y (8 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.