Phenotype #0000355442

Individual ID	00470293
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	MRD21
Phenotype details	see paper; ..., intra-uterine growth retardation; birth 30w; oligohydramnios; 9m-sit; 18m-walk; 12m-first word; 30m-first sentence; motor delay; speech delay; behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; no hypotonia; sleep problems, difficulty falling asleep; special education; feeding difficulties/failure to thrive; no gastro-intestinal problems; hearing loss; nystagmus, wears glasses; high arched palate; no cardiac defect; no urogenital anomalies; scoliosis; no plagiocephaly; no single palmar crease; no integumentary; teeth growing before baby teeth fall off; no recurrent infections
Inheritance	Isolated (sporadic)
Age/Examination	8y (8 years)
Age/Diagnosis	-
Age/Onset	6m
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