Phenotype #0000355431

Individual ID	00470282
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	MRD21
Phenotype details	see paper; ..., motor delay; no autism; intellectual disability, developmental delay; no seizures; no hypotonia; no sleep problems; "learning difficulties in school"; no feeding difficulties/no failure to thrive; no gastro-intestinal problems; no hearing loss; wears glasses; no cleft palate/no palatal anomalies; no cardiac defect; solitary kidney; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; normal teeth; no recurrent infections
Inheritance	Familial, autosomal dominant
Age/Examination	39y (39 years)
Age/Diagnosis	-
Age/Onset	-
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