Phenotype #0000355423

Individual ID	00470274
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	MRD21
Phenotype details	see paper; ..., intra-uterine growth retardation; birth 34w1d; premature birth; low birth weight (<2500g); low movement; 10m-sit; 16m-walk; 15m-first word; motor delay; speech delay; no behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; no hypotonia; EEG normal; no sleep problems; no special education; feeding difficulties/failure to thrive; no gastro-intestinal problems; no hearing loss; normal vision; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; gait abnormal, Calcaneovalgus deformity; plagiocephaly; no single palmar crease; ectodermal dysplasia; conical shaped teeth; no recurrent infections
Inheritance	Isolated (sporadic)
Age/Examination	3y (3 years)
Age/Diagnosis	-
Age/Onset	4m
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