Phenotype #0000223019

Individual ID	00289407
Associated disease	NDD
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	birth 33w5d, length 46.4cm (3rd-10th), weight 2.575kg (3rd-10th), head 35cm (25th-50th); height 65.1cm (-2.5SD), weight 5.6kg (-4SD), head 49cm (+3.5SD); prenatal polyhydramnios, breech presentation; congenital heart disease; hypotonia, swallowing dysfunction, feeding difficulties; motor delay; speech delay; no epilepsy; central hypotonia; MRI brain 4m-enlargement all ventricles, prominent subarachnoid spaces, bifrontal extra-axial fluid spaces, 17m-mildly increased ventriculomegaly, symmetrically dysmorphic hippocampi; frontal bossing, triangular face; low-set small ears; hypertelorism, deep set eyes; low and wide nasal bridge, wide and bulbous nasal tip, short nose; wide gums; micrognathia; normal hands; normal feet; no hearing impairment; small optic discs; small ventricular septal defect;, pulmonary stenosis and supravalvular pulmonary stenosis, mild right ventricular outflow obstruction; no respiratory abnormality; choking episodes, gastroesophageal reflux disease, Sandifer syndrome, 6m-gastrostomy; no urogenital abnormality; no skin abnormality; no endocrine abnormality; no sleep disturbance; failure to thrive
Inheritance	Isolated (sporadic)
Age/Examination	10m
Age/Diagnosis	10m
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