Phenotype #0000236634

Individual ID	00311387
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	birth weight 2.44 Kg (5th %ile), length normal, OFC 30 cm (<2.5th%ile); normal height, normal weight, OFC -4.26; developmental delay/intellectual disability, 4y10m-developmental age 20m; gross motor delay, fine motor delay, walk-36m; speech delay; autistic features, no attention deficit hyperactivity disorder, aggressiveness; hypotonia; no sleep problems; bilateral sensorineural hearing loss reverse cookie bitepattern; intermittent esotropia; no musculoskeletal anomalies; triangular face, prominent and broad forehead, prominent glabella, upswept frontal hairline, downslanting palpebral fissures, arched eyebrows, bilateral epicanthal folds, small ears, posteriorly rotated ears, low set ears, anteverted nares with broad and rounded tip, broad and high nasal bridge, micrognathia, thin upper lip, narrow palate with torus; GERD, aspiration, GT placed, constipation, dysphagia; MRI brain normal; ECG atrial septal defect, PDA, polyvalvular dysplasia, hypoplastic abdominal aorta, abnormal origin R coronary artery; renal ultrasound small L nephrolithiasis, mild R pelvicaliectasis; inguinal hernia, hydrocele, sacral dimple, torticollis; both parent have intellectual disability, father has similar facial features
Inheritance	Familial, autosomal dominant
Age/Examination	6y (6 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-09-24 16:15:46 +02:00 (CEST)
Date last edited	N/A