Phenotype #0000239724

Individual ID 00315979
Associated disease ?
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details see paper; ..., no failure to thrive; no globe defect; bilateral: macula; visual impairment; bilateral retinal dysplasia, nasolacrimal duct stenosis; strabismus; motor delay; speech delay; moderate/severe intellectual disability; repetitive behaviors, anxiety; no hypotonia; no cardiac defect; no kidney anomaly; Low-set ears; bilateral inguinal hernia, cryptorchidism
Inheritance Isolated (sporadic)
Age/Examination 13y01m (13 years, 1 month)
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 19:37:16 +01:00 (CET)

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