Global Variome shared LOVD

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

Phenotype #0000308046 Individual ID 00416279 Associated disease del 1p36 Diagnosis/Initial 1p36 deletion syndrome Diagnosis/Definite - Phenotype details developmental delay, peripheral hypertonia; generalized tonic clonic seizures; enlarged cerebrospinal fluid spaces; two small right coronary artery fistulae terminating in the left atrium and right ventricle; microcephaly, prominent forehead, hypertelorism, epicanthal folds, high arched eyebrows, synophrys, long eyelashes, posteriorly rotated ears, overfolded helices, upturned nose, short neck, bilateral fifth finger clinodactyly, hirsuitims; gastroesophageal reflux Inheritance Isolated (sporadic) Age/Examination 14m 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 2022-08-26 10:31:45 +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.