Global Variome shared LOVD

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

Phenotype #0000295656 Individual ID 00402905 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details polyhydramnios; mildly hypotonic facies, posteriorly rotated ears, small chin, high arched palate; gross developmental delay, fine motor delays (improved); normal growth; OFC normal; distal arthrogryposis (improved), axial hypotonia, non-specific myopathy, tracheomalacia, vocal cord paralysis (improved); MRI brain normal; ophthalmology normal; no hearing loss; bilateral hip dislocation; oxygen supplementation and tracheostomy (resolved), cryptorchidism, gastrostomy feeding (improved), constipation Inheritance Familial, autosomal recessive Age/Examination 5y (5 years) Age/Diagnosis - Age/Onset 1d 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 2022-02-14 10:40:27 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.