Phenotype #0000351790

Individual ID 00466425
Associated disease KDVS
Phenotype details Hypotonia, Intellectual disability, mild, Seizure, Abnormal brain morphology, Multicystic kidney dysplasia, Aortic regurgitation, Joint hypermobility, Pes valgus, Scoliosis, Bicuspid aortic valve, Mitral valve prolapse, Abnormal ascending aorta morphology, Hypoplasia of the corpus callosum, Strabismus, Astigmatism, Arachnodactyly, Periventricular leukomalacia, Infantile encephalopathy
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 11y (11 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2025-09-01 14:01:45 +02:00 (CEST)
Date last edited 2025-09-05 09:41:41 +02:00 (CEST)

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