Phenotype #0000187370

Individual ID	00248376
Associated disease	NDD
Diagnosis/Initial	developmental delay
Diagnosis/Definite	CHOPS
Phenotype details	see paper; …, Synophrys, upturned nose, downslanting palpebral fissures, prominent vertical forehead crease, large anterior fontanelle, thick cranial vault with prominent Wormian bones along the lambdoid suture, microbrachycephaly; birth weight 3,430 g (−0.18 SD), height 48 cm (−0.75 SD), head circumference 34.5 cm (0 SD); latest weight 84.8 kg (+0.98 SD), height 142.7 cm (−4.6 SD), head circumferance 58 cm (+2 SD) ; None reported; Noisy breather and snores but not significant apnea; Mild sensorineural hearing loss; Brachydactyly, joint hypermobility (Beighton score 6/9), mild truncal hypotonia, osteopenic bones, immature ovoid appearance to the vertebral bodies of the thoracic and lumbar spine, narrowing of the T11/12 intervertebral disc space, mild shortening of the proximal humeri and metacarpals, hypoplasia of the distal phalanges of the toes, pes planus, limited extension of the right elbow, small hands and feet; Horseshoe kidney, mild coronal hypospadias (repaired), small genitalia; no GI reported; Strabismus, bilateral ptosis, gynecomastia, acanthosis nigricans, hirsutism
Inheritance	Isolated (sporadic)
Age/Examination	23y (23 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 21:47:38 +02:00 (CEST)

Global Variome shared LOVD