Phenotype #0000308040

Individual ID 00416273
Associated disease del 1p36
Diagnosis/Initial 1p36 deletion syndrome
Diagnosis/Definite -
Phenotype details hypotonia; atrial septal defect, patent ductus arteriosus, ventricular septal defect, cleft mitral valve, redundant tricuspid valve leaflets, mild pulmonary valve stenosis; severe biventricular hypertrophy; sensorineural hearing loss; bilateral cleft lip and palate; microcephaly, prominence of forehead and perietal bones, broad face, hypertelorism, epicanthal folds, bushy, arched eyebrows, posteriorly rotated ears, wide nose with a split appearance to the tip, digital contractures, hirsutism; bilateral nasolacrimal duct obstruction, gastroesophageal reflux
Inheritance Isolated (sporadic)
Age/Examination 2m
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-08-26 10:31:45 +02:00 (CEST)
Date last edited N/A

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