Phenotype #0000355425

Individual ID	00470276
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	MRD21
Phenotype details	see paper; ..., intra-uterine growth retardation; birth 37w; low birth weight (<2500g); oligohydramnios, low movement; 8m-sit; 14m-walk; 18m-first word; 36m-first sentence; no motor delay; speech delay; no behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; no hypotonia; MRI grey matter heterotropia; no sleep problems; feeding difficulties/failure to thrive; tube feeds; hearing loss; normal vision; no cleft palate/no palatal anomalies; no; no urogenital anomalies; musculoskeletal anomalies (no details; no plagiocephaly; no single palmar crease; no integumentary; abnormal decay, many cavitiies; no recurrent infections
Inheritance	Isolated (sporadic)
Age/Examination	4y (4 years)
Age/Diagnosis	-
Age/Onset	utero
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