Phenotype #0000350112

Individual ID 00464051
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite OCNDS
Phenotype details see paper; ..., failure to thrive, developmental delay, dysmorphism, prominent forehead, arched eyebrows, downslanting palpebral fissures, almond-shaped eyes, low set ears, retronagthia, high-arched palate, bilateral single palmer crease, bilateral 5th finger clinodactyly, bilateral hypoplasia 5th toe nails
Inheritance Isolated (sporadic)
Age/Examination 4y (4 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 2025-02-14 18:11:27 +01:00 (CET)
Date last edited N/A

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