Phenotype #0000187371

Individual ID	00248377
Associated disease	NDD
Diagnosis/Initial	developmental delay
Diagnosis/Definite	CHOPS
Phenotype details	see paper; …, Mild Synophrys with prominent eyebrows, prominent eyelashes, bilateral proptosis, facial hirsutism, upturned nose, bitemporal narrowing, microcephaly, cupped ears with simple helices, high arched palate, and clubbing of nails, hands and feet; birth weight 1,474 (−3.34 SD), height 38 cm (−6.17 SD); latest weight 20.9 kg (−2 SD), height 93.8 cm (−5.9 SD), head circumferance 47 cm (−4.1 SD) ; VSD, congenital dilated aortic root, pulmonary hypertension; Subglottic stenosis, chronic lung disease and respiratory failure, tracheostomy, idiopathic pulmonary hemosiderosis, diffuse pulmonary alveolar hemorrhage, acute interstitial pneumonia; Bilateral sensorineural hearing loss; Absent left thumb (not congenital); Single kidney, sexual precocity; Nissen‐G tube, constipation, GERD; Astigmatism, otorrhea, optic nerve hypoplasia of left eye, intermittent exotropia, ptosis, chronic bilateral otitis media, hyperglycemia, polycythemia, steroid‐induced diabetes mellitus, iatrogenic adrenal insufficiency, prematurity
Inheritance	Isolated (sporadic)
Age/Examination	09y (9 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-07-22 21:27:37 +02:00 (CEST)
Date last edited	2019-07-22 21:48:16 +02:00 (CEST)