Global Variome shared LOVD

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

Phenotype #0000223023 Individual ID 00289411 Associated disease NDD Diagnosis/Initial - Diagnosis/Definite - Phenotype details birth 40w, length 54.6cm (97th), weight 3.800 kg (75th-90th), (macrocephalic); height 158.8cm (25th-50th), weight 90.7kg (+2.5SD), head 5y-56cm (+4SD); multicystic kidney dysplasia; hypotonia, respiratory and feeding difficulties; motor delay; walk-24m; speech delay; mild intellectual disability; no epilepsy; MRI brain normal; anxiety; large forehead; normal ears; asymmetric palpebral fissures; prominent and wide nasal bridge, wide and bulbous nasal tip; thin lips; norma chin; normal hands; normal feet; no hearing impairment; abnormality refraction; patent ductus arteriosus, small ventricular septal defect; no respiratory abnormality; chronic constipation, gastroesophageal reflux disease; left multicystic kidney; eczema; hypothyroidism; sleep apnea; unusual fat distribution Inheritance Isolated (sporadic) Age/Examination 15y (15 years) Age/Diagnosis 15y 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 2020-03-08 16:45:25 +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.