Phenotype #0000355440

Individual ID	00470291
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	MRD21
Phenotype details	see paper; ..., no prenatal growth anomalies; birth 38w; normal birth weight; 8.5m-sit; 16m-walk; 12m-first word; 24m-first sentence; motor delay; speech delay; no behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; hypotonia; sleep problems, difficulty falling asleep and is an early riser; feeding difficulties/failure to thrive; no gastro-intestinal problems; no hearing loss; astigmatism, wears glasses; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; kyphosis, scoliosis, tight hamstrings; no plagiocephaly; no single palmar crease; no integumentary; Dentofacial disproportion, hyperdontia; no recurrent infections
Inheritance	Isolated (sporadic)
Age/Examination	17y (17 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