Phenotype #0000317631

Individual ID 00426477
Associated disease ?
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details see paper; ..., failure to thrive; no globe defect; no coloboma; visual impairment; lagophthalmos; no motor delay; speech delay; intellectual disability; no behavioral features; no hypotonia; cardiac defect; no kidney anomaly; Malrotation of intestine; downslanting palpebral fissures; cleft palate
Inheritance Isolated (sporadic)
Age/Examination 15y07m (15 years, 7 months)
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 2022-11-30 20:30:06 +01:00 (CET)
Date last edited N/A

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