Phenotype #0000236402

Individual ID 00311147
Associated disease CAKUT
Phenotype details renal ultrasound normal; ECHO heart normal; short stature (3rd percentile), dysmorphic facial features (wide eyebrows, wide interpupillary and intercanthal distance, epicanthal folds, narrow downslanting palpebral fissures, nose with a wide tip, downturned corners of the mouth, small and low set ears with hypoplastic lobule), 5th finger clinodactyly; microcephaly, developmental delay, speech delay
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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