Phenotype #0000351834

Individual ID 00466472
Associated disease ?
Diagnosis/Initial intellectual disability, cardiomyopathy
Diagnosis/Definite -
Phenotype details see paper; ..., 31wg-ECG prenatal moderate dilatation of left ventricle, decreased contractility; birth 39w-Cesarean section, weight 2830g, length 49cm, OFC 35cm; 2h-critically unstable; 21d-pyloric stenosis (surgical correction); left ventricle noncompaction; frontal bossing, underfolded cleft helix, prominent superior crus of antihelix, serpiginous left antihelix stem, single transverse palmar crease right hand, dilated cardiomyopathy; central nervous system depression, decreasing periods wakefulness/response to examination; decreased general motor activity, muscle hypotension, delayed unconditional reflex activity; delayed motor development
Inheritance Isolated (sporadic)
Age/Examination 03y (3 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset 0d
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2025-09-05 16:35:54 +02:00 (CEST)
Date last edited N/A

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