Phenotype #0000356809

Individual ID 00472000
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite -
Phenotype details see paper; ..., brith 34w; moderate global developmental delay; speech delay; MRI normal; global developmental delay; facial asymmetry, epicanthal folds, retrognathia; plagiocephaly, clinodactyly; unilateral kidney agenesis; coloboma; failure to thrive; hypertrichosis
Inheritance Isolated (sporadic)
Age/Examination 5y (5 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2026-01-05 12:55:15 +01:00 (CET)
Date last edited N/A

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