Phenotype #0000236387

Individual ID 00311132
Associated disease CAKUT
Phenotype details upper urinary tract renal agenesis, lower urinary tract hypospadias, cryptorchidism, chordee, Müllerian duct remnants; bicuspid aortic valve; small hands & feet; skin: facial dysmorphsims, convex dysplastic finger nails, hypoplastic toenails; feeding problems, oral phase dysphagia, intra-uterine growth retardation, growth delay; microcephaly, developmental delay, hypotonia, tethered cord
Diagnosis/Initial CAKUT
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Onset -
Phenotype/Onset -
Protein -
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 2020-09-19 17:29:02 +02:00 (CEST)
Date last edited N/A

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