Phenotype #0000283603

Individual ID 00390064
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details developmental delay, mild myopathy, right orchiopexy, horseshoe kidney, anger issues, shirt terminal phalanges, lactose intolerance, lipomastia, slanting palpebral fissures, brachydactyly, tapering fingers, mild retrognathia, increased laxity, coordination issues
Inheritance Isolated (sporadic)
Age/Examination 25y (25 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 2021-11-09 16:34:00 +01:00 (CET)
Date last edited N/A

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