Phenotype #0000236389

Individual ID 00311134
Associated disease CAKUT
Phenotype details upper urinary tract hypoplastic pelvic kidney (R) detected by “reverse phenotyping”; facial dysmorphisms (triangular face, broad neck, broad nasal bridge), scoliosis; single palmar crease on left, tapered fingers, tapered lower extremities; developmental delay, auditory attention, startle reflex, motor stereotypies
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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