Phenotype #0000337367

Individual ID	00448153
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	-
Phenotype details	see paper; ..., birth 35w Ceasarean section (oligohydramnios, FGR low biophysical profile); conductive hearing loss (hearing aids); recurrent ear infection (tubes); strabismus (2 surgeries); myopia & astigmatism; bilateral posterior polar cataracts; developmental motor delay; 4y-walk; very delayed fine motor difficulties (4y6m-utensils); developmental delay language; no speech; no speech; autism; no ADHD; involuntary movements and vocalization, aggression, agitation, bruxism; obstructive sleep apnea; moderate intellectual disability; special education; congenital anomalies; PDA, trivial TVR, Ao coarctation > dilated ascending aorta; bilateral nonobstructing renal calculi; MRI brain normal; GERD, feeding difficulties; constipation, G-tube placement and Nissen fundoplication; endocrine abnormalities; tumors; no parathyroid adenoma; hyperparathyroidism; hypotonia (truncal>appendicular); no seizures; low anterior hairline, smooth and long philtrum, thin upper lip, micrognathia, thickened helices with asymmetric ears that were relatively large; thickened helices with asymmetric ears, relatively large ears; broad forehead with metopic ridging; smooth and long philtrum, thin upper lip, micrognathia; low anterior hairline , arched eyebrows that are mildly broad medially; small phallus and scrotums, retractable testes; umbilical hernia, inguinal hernia s/p repair; Squared finger tips with symmetric abnormal creases in feet, deep seated toenails, hallus valgus deformity, pectus excavatum, limitataion in elbow joint; tracheostomy-dependent; pierre-robin sequence (s/p cleft palate repair)
Inheritance	Familial, X-linked
Age/Examination	14y5m (14 years, 5 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-02-21 16:36:37 +01:00 (CET)
Date last edited	N/A