Phenotype #0000355445

Individual ID	00470296
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	MRD21
Phenotype details	see paper; ..., no prenatal growth anomalies; birth 38w; low birth weight (<2500g); "aged placenta"; 6m-sit; 1y-walk; 11m-first word; 18m-first sentence; speech delay; no behavioural anomalies; no autism; no intellectual disability, no developmental delay; seizures; no hypotonia; no sleep problems; no feeding difficulties/no failure to thrive; no gastro-intestinal problems; no hearing loss; hypermetropia; cleft palate; no cardiac defect; no urogenital anomalies; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; missing teeth, abnormal shape; no recurrent infections
Inheritance	Isolated (sporadic)
Age/Examination	2y (2 years)
Age/Diagnosis	-
Age/Onset	1d
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