Phenotype #0000310204

Individual ID	00418916
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	MRD62
Phenotype details	pregnancy induced with ovarian stimulation, Caesarean section due to altered cardiotocography and hyperpyrexia during labor; birth 40w, length 51cm (p50-75), weight 3830g (p90-97), OFC 35cm (p75); weight 40kg (P50), height 152,5cm (P50), OFC 52cm (P50); delayed motor mevelopment, normal gait; delayed hand skills; delayed language development (incomplete phoneme development, articulation impairment); no regression; no language regression; no motor regression; severe intellectual disability, IS <40; no autism; no anxiety; attention deficit hyperactivity disorder; withdrawn behavior; no abnormal movements; normal muscle tone; 6y-epilepsy, febrile seizures, good control with VPA; EEG focal (sleep); MRI normal; strabismus (alternating exotropia) astigmatism; normal hearing; normal skin; high forehead; normal eyes; normal nose; normal philtrum; normal mouth; normal chin; normal ears; no skeletal manifestations; normal hands/feet; no Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems; 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