Phenotype #0000355456

Individual ID 00470307
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite MRD21
Phenotype details see paper; ..., no prenatal growth anomalies; birth 39w2d; normal birth weight; 9m-sit; 20m-walk; 21m-first word; motor delay; speech delay; stereotypies; autistic features; intellectual disability, developmental delay; no seizures; hypotonia; no sleep problems; feeding difficulties/failure to thrive; no hearing loss; strabismus; no cleft palate/no palatal anomalies; cryptorchidism; no integumentary; normal teeth;
Inheritance Isolated (sporadic)
Age/Examination 2y (2 years)
Age/Diagnosis -
Age/Onset 6m
Phenotype/Onset -
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 2025-11-30 10:24:36 +01:00 (CET)
Date last edited N/A

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