Phenotype #0000355414

Individual ID	00470265
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	MRD21
Phenotype details	see paper; ..., no prenatal growth anomalies; birth 39w; normal birth weight; 6m-sit; 14m-walk; 13m-first word; 48m-first sentence; motor delay; speech delay; aggressive behavior; destructive behavior; autism; intellectual disability, developmental delay; seizures; no hypotonia; MRI normal; EEG anomalies; sleep problems, wakes frequently; special education; no feeding difficulties/no failure to thrive; no gastro-intestinal problems; no hearing loss; normal vision; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; musculoskeletal anomalies (no details; no plagiocephaly; no single palmar crease; no integumentary; tooth abscesses, missing adult teeth; otitits
Inheritance	Isolated (sporadic)
Age/Examination	18y (18 years)
Age/Diagnosis	-
Age/Onset	1y
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-11-30 10:24:36 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD