Phenotype #0000223020

Individual ID	00289408
Associated disease	NDD
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	birth 39w, length 47cm (10th-25th), weight 2.700kg (3rd-10th); height 151.8cm (-3.1SD), weight 49.7kg (3rd), head (25th); prenatal hypoplastic left heart; congenital heart disease; bradycardia, dysrhytmia, thrombocytopenia; motor delay; walk-36m; speech delay; first words 4y; intellectual disability (IQ46); epilepsy; left hemiparesis, intractable migraines, dystonia, chorea; MRI brain 16y-borderline enlarged ventricles, slightly small corpus callosum splenium; overfriendliness, attention deficit hyperactivity disorder, agitation; normal cranium/normal forehead; low-set small ears; hypertelorism; short, low nasal bridge, upturned nares; high-arched palate; pointed chin; normal hands; normal feet; no hearing impairment; abnormality refraction; variant of hypoplastic left heart syndrome (atrial septal defect, small left ventricule, mitral valve and aorta) with left ventricular outflow tract obstruction (subaortic membrane, bicuspid aortic valve, coartation descending aorta); episode of hemoptysis; no astrointestinal abnormality; (hypogonadism; no skin abnormality; testosterone treatment; sleep apnea; failure to thrive in infancy, bleeding disorder with platelet dysfunction, chronic jaundice, mild scoliosis, osteoporosis, vitamin D deficiency
Inheritance	Isolated (sporadic)
Age/Examination	17y11m (17 years, 11 months)
Age/Diagnosis	17y11m
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-03-08 16:45:25 +01:00 (CET)
Date last edited	N/A