Phenotype #0000355435

Individual ID	00470286
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	MRD21
Phenotype details	see paper; ..., intra-uterine growth retardation; birth 32w; premature birth; low birth weight (<2500g); single umbilical artery; preeclampsia; microcephaly; motor delay; speech delay; behavioural anomalies; no autism; intellectual disability, developmental delay; seizures; no hypotonia; loss of balance, cerebral palsy; no sleep problems; special education; feeding difficulties/failure to thrive; no gastro-intestinal problems; no hearing loss; normal vision; cleft palate; no cardiac defect; no urogenital anomalies; kyphosis; no plagiocephaly; single palmar crease; no integumentary; normal teeth; no recurrent infections
Inheritance	Isolated (sporadic)
Age/Examination	17y (17 years)
Age/Diagnosis	-
Age/Onset	<0d
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