Phenotype #0000242892

Individual ID	00324349
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	birth weight 3.37kg (p50), ,; weight p5, height p40, OFC p50; motor development 2 word phrases at 2.5 ys. full sentences at 3.5 ys. hypernasal speech. currently speaks in phrases and short sentences. solid nonverbal communication including integrating eye contact, gestures, and facial expressions with his speech. moderately low expressive vocabulary. therapy 5 days a week for several years. preschool for children with language based learning disorders. speaks well now, but occasionally muffled, difficult to understand; speech furst words 12m; borderline intelletual disability (we had mild); 10y-global IQ score 69, full scale IQ 72; attention/concentration deficit, takes intuniv, quillivant and vayarin for attention deficit hyperactivity disorder. socially immature; no autism spectrum disorder; attention deficit hyperactivity disorder/ADD; hypotonia; no seizures; MRI brain normal; no congenital anomalies; strabismus, almond shaped full eyes, small eyes, intermittent exotropia. thin upper lip. bulbous nose, wide nasal bridge; normal hearing; normal eyes; recurrent ear infections, ear tubes surgery. medical history of constipation and reflux;
Inheritance	Isolated (sporadic)
Age/Examination	10y (10 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Bregje van Bon
Database submission license
Created by	Johan den Dunnen
Date created	2020-12-07 19:16:12 +01:00 (CET)
Date last edited	N/A