Phenotype #0000355457

Individual ID	00470308
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	MRD21
Phenotype details	see paper; ..., smaal for gestational age; birth at term; low birth weight (<2500g); microcephaly; 12m-walk; no speech; motor delay; speech delay; autism; intellectual disability, developmental delay; seizures; no hypotonia; MRI small nonenhancing foci of hyperintense T2/FLAIR periventricular white matter signal abnormality is suspicious for periventricular leukomalacia; no sleep problems; 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 urogenital anomalies; no musculoskeletal anomalies; no integumentary; normal teeth;
Inheritance	Isolated (sporadic)
Age/Examination	4y (4 years)
Age/Diagnosis	-
Age/Onset	3y6m
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