Phenotype #0000310197

Individual ID	00418909
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	MRD62
Phenotype details	maternal pre-eclampsia with twin pregnancy prompting induction at 34w; birth 34w5d, length 43cm, weight 1786g, OFC 32cm; weight 17.6kg (P4), height 112cm (P11), OFC 49.6cm (P8); delayed motor mevelopment, deficits in motor planning and strengt, 2y-walk, low strength, hyperextensible limbs; delayed hand skills (impaired pincer grasp); mild delay language development (expressive>receptive, speaks in short sentences, difficulty with articulation); no regression; no language regression; no motor regression; mild intellectual disability; no autism; no anxiety; no attention deficit hyperactivity disorder; happy, hypersocial; no abnormal movements; hypotonia; no epilepsy; EEG normal; MRI normal; strabismus, hyperopia requiring surgery; normal hearing; normal skin; hyperextensible knees requiring afos joint laxity; normal hands/feet; Marfanoid habitus; no heart/aorta defects; reflux, early satiety, vomiting; no endocrine dysfunction; normal breathing; no bruxism; sleep problems, restless w/ frequent nighttime awakening; no peripheral vasomotor disturbances; no diminished pain response; intense eye communication; no genital malformations; no infection tendency
Inheritance	Isolated (sporadic)
Age/Examination	6y6m (6 years, 6 months)
Age/Diagnosis	-
Age/Onset	10m
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