Phenotype #0000355452

Individual ID	00470303
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	MRD21
Phenotype details	see paper; ..., intra-uterine growth retardation, no prenatal growth anomaliesse hypoplasic, NT; birth 40w; normal birth weight; 6m-sit; 18m-walk; 9y-first sentence; no motor delay; speech delay; no behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; no hypotonia; no sleep problems; special education; feeding difficulties/failure to thrive; tube feeds; no hearing loss; normal vision; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; camptodactly; no plagiocephaly; no single palmar crease; no integumentary; persistance of deciduous teeth requirring intervention, delayed definitive teeth; no recurrent infections
Inheritance	Isolated (sporadic)
Age/Examination	10y (10 years)
Age/Diagnosis	-
Age/Onset	-
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