Phenotype #0000267378

Individual ID 00372049
Associated disease CHTD
Phenotype details small for gestational age unknown (?HP:0001518), no Short stature (-HP:0004322), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), Downslanted palpebral fissures (HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), no Short neck (-HP:0000470), no Broad neck (-HP:0000475), High palate (HP:0000218), Micrognathia (HP:0000347), no Abnormal heart morphology (-HP:0001627), no Cardiomyopathy (-HP:0001638), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Hearing impairment (HP:0000365), no Neurodevelopmental delay (-HP:0012758)
Diagnosis/Initial congenital heart defect
Inheritance Familial, autosomal dominant
Diagnosis/Definite CHDT2
Age/Examination 37y (37 years)
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Aafke Engwerda
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Aafke Engwerda
Date created 2021-05-06 15:07:19 +02:00 (CEST)
Date last edited N/A

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