Phenotype #0000239727

Individual ID 00315982
Associated disease ?
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details see paper; ..., no failure to thrive; no globe defect; no coloboma; visual impairment; Stellate irides; motor delay; speech delay; attention deficit-hyperactivity disorder, sensory processing disorder, self-injurious and repetitive behaviors; hypotonia; cardiac defect; kidney anomaly; Kyphosis; microcephaly; upturned nose
Inheritance Isolated (sporadic)
Age/Examination 05y07m (5 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 2020-11-01 10:06:29 +01:00 (CET)
Date last edited 2022-11-30 19:43:55 +01:00 (CET)

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