Phenotype #0000310220

Individual ID	00418932
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	MRD62
Phenotype details	normal pregnancy; birth 40w2d, weight 3500g; weight 34kg, height 147.7cm, OFC 53cm (P50); delayed motor mevelopment, normal gait; delayed hand skills; normal language development; no regression; no language regression; no motor regression; moderate intellectual disability, IQ 40; no autism; no anxiety; attention deficit hyperactivity disorder; social; no abnormal movements; normal muscle tone; no epilepsy; EEG normal; MRI normal; strabismus (exotropia); difficulties with depth perception; normal hearing; normal skin; normal shape face; fine eyebrows; normal nose; normal philtrum; normal mouth; normal chin; normal ears; kyphosis pes plano valgus joint laxity; fetal finger pads; no Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems; no peripheral vasomotor disturbances; diminished pain response; no intense eye communication; dyspraxia; 9y-transient immune trombocytepenia; no genital malformations; ear infections
Inheritance	Isolated (sporadic)
Age/Examination	10y (10 years)
Age/Diagnosis	-
Age/Onset	6m
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