Global Variome shared LOVD

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

Phenotype #0000267373 Individual ID 00372044 Associated disease CHTD Phenotype details small for gestational age unknown (?HP:0001518), Short stature (HP:0004322), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), Ptosis (HP:0000508), no Ears abnormal position (-HP:0000357), no Short neck (-HP:0000470), no Broad neck (-HP:0000475), Thick lower lip vermilion (HP:0000179), Long philtrum (HP:0000343), Abnormal heart morphology (HP:0001627), Atrial septal defect (HP:0001631), Ventricular septal defect (HP:0001629), Cardiomyopathy unknown (?HP:0001638), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), Cryptorchidism (HP:0000028), Feeding difficulties (HP:0011968), Hypermetropia (HP:0000540), Hearing impairment unknown (?HP:0000365), Neurodevelopmental delay (HP:0012758) Diagnosis/Initial congenital heart defect Inheritance Unknown Diagnosis/Definite CHDT2 Age/Examination 15y (15 years) Age/Onset - Phenotype/Onset - Protein - Owner name Aafke Engwerda Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Aafke Engwerda Date created 2021-05-06 15:07:19 +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.