Phenotype #0000239723

Individual ID 00315978
Associated disease ?
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details see paper; ..., failure to thrive; no globe defect; no coloboma; no visual impairment; motor delay; speech delay; mild/moderate intellectual disability; stereotypies, agitation, anxiety; no hypotonia; no cardiac defect; no kidney anomaly; Microcephaly; bilateral cryptorchidism, epicanthal folds; left eye 1-2 toe syndactyly; upturned nose; thin upper lip
Inheritance Isolated (sporadic)
Age/Examination 34y (34 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 19:35:08 +01:00 (CET)

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