Global Variome shared LOVD

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

Phenotype #0000254896 Individual ID 00359623 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth 42w, weight 3480g (70th centile), length 52cm (93rd centile), OFC 34.5 (60th centile); weight 12.35kg 3y (4th centile), length 90cm 3y (14th centile), OFC 47cm 3y (5th centile); no hypotonia; mild intellectual disability (IQ69); hypermetropia, strabismus; conductive hearing loss requiring tympanostomy tubes; no seizures; MRI-brain mild delayed myelination; straight, dark, eyebrows with medial flare, lateral extension; lateral extension to palpebral fissures; short nose; midface hypoplasia; thin upper vermilion border; large ears with fleshy lobes; short neck; soft skin; short toes; 2y9m-obstructive sleep apnoea requiring adeno-tonsillectomy Inheritance Isolated (sporadic) Age/Examination 3y (3 years) Age/Diagnosis - Age/Onset 9m 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 2021-04-02 17:28:47 +02:00 (CEST) Date last edited N/A

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