Phenotype #0000355422

Individual ID	00470273
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	MRD21
Phenotype details	see paper; ..., intra-uterine growth retardation; birth 33w6d; premature birth; low birth weight (<2500g); single umbilical artery; amnion band, preterm labor due to pyelonephritis; 12m-sit; m-walk; 24m-first word; motor delay; speech delay; no stranger anxiety; no autism; intellectual disability, developmental delay; no seizures; hypotonia; loss of balance; no sleep problems; special education; no feeding difficulties/no failure to thrive; no gastro-intestinal problems; bilateral hearing loss; normal vision; Pierre Robin sequence; no cardiac defect; urinary reflux and low kidney function; hypermobile; no plagiocephaly; no single palmar crease; no integumentary; normal teeth; no recurrent infections
Inheritance	Isolated (sporadic)
Age/Examination	2y (2 years)
Age/Diagnosis	-
Age/Onset	2m
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