Phenotype #0000355410

Individual ID	00470261
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	MRD21
Phenotype details	see paper; ..., birth; -39w, weight 1.9 kg (<−3SD), length 45 cm (<−3SD); no muscular hypotonia; weight 18 kg (<−2SD), height 120.3 cm (<−3SD), OFC 47.5 cm (<−3SD); developmental delay, intellectual disability, movement delay, memory deficit; <16m-walk; 24m-first words; sensitive, attention deficit, hyperactivity; CT brain normal; no recurrent infections; myopia; normal hearing; no urogenital anomalies; hypodontia, caries; widely spaced eye, depressed nasal bridge, upslanting palpebral fissures, flat malar bone, micrognathia; 12 rib pairs; persistent patent ductus arteriosus (8y-repaired)
Inheritance	Isolated (sporadic)
Age/Examination	7y11m (7 years, 11 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-11-29 17:09:21 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD