Phenotype #0000310215

Individual ID	00418927
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	MRD62
Phenotype details	normal pregnancy; birth 38w3d, weight 3600g; weight 36kg (P5-10), height 155cm (P75), OFC 54.8cm (P70); early motor milestones normal, 12-15m-walk, 3y-motor decline; 1y/3y-ew single words, 3y-regression, currently nonverbal; 3y-regression; language regression; motor regression; severe intellectual disability; autism; no anxiety; no attention deficit hyperactivity disorder; no abnormal movements; normal muscle tone; no epilepsy; no ophthalmological anomalies; normal hearing; skin several hyperpigmentations back and legs; normal shape face; normal eyes; normal nose; normal philtrum; normal mouth; normal chin; normal ears; pectus anomaly joint laxity; long fingers and toes; Marfanoid habitus; no heart/aorta defects; constipation; no endocrine dysfunction; normal breathing; no bruxism; sleep problems, difficulty falling asleep, treated with melatonin; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; no genital malformations; no infection tendency
Inheritance	Isolated (sporadic)
Age/Examination	11y (11 years)
Age/Diagnosis	-
Age/Onset	3y
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-10-13 19:59:42 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD