Phenotype #0000239728

Individual ID 00315983
Associated disease ?
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details see paper; ..., failure to thrive; left eye microphthalmia; left eye iris coloboma, optic nerve; right eye iris coloboma; visual impairment; right eye complex Rieger anomaly; no motor delay; speech delay; profound intellectual disability; no behavioral features; cardiac defect; no kidney anomaly; Short trunk; thyroid hypoplasia; 5th finger clinodactyly; upturned nose; thin lips
Inheritance Isolated (sporadic)
Age/Examination 10y (10 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 2020-11-01 10:06:29 +01:00 (CET)
Date last edited 2022-11-30 19:47:58 +01:00 (CET)

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