Phenotype #0000357592

Individual ID 00472797
Associated disease ?
Diagnosis/Initial multiple congenital anomalies
Diagnosis/Definite RENS1
Phenotype details see paper; ..., congenital heart defects (ventricular septal defect, patent ductus artery), vertebral anomalies (butterfly vertebrae), ectopic pelvic left kidney, hypospadias, sensorineural hearing loss, failure to thrive; developmental delay; small, dysmorphic (deep-set eyes, midface hypoplasia, broad nose, low-set ears, high palate), 4-5 toe syndactyly, microbrachycephaly
Inheritance Familial, X-linked recessive
Age/Examination 03y (3 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2026-02-28 13:22:07 +01:00 (CET)
Date last edited N/A

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