Phenotype #0000223487

Individual ID	00296020
Associated disease	Okamoto
Diagnosis/Initial	Okamoto syndrome
Diagnosis/Definite	-
Phenotype details	birth 35w gestation, weight was 3,340g, length 48cm, head circumference 33.6cm; 5y-length was 96.6cm (−2.5SD), weight 14.7kg (−1.4SD), head circumference 53 cm (+1.4SD); lumbar scoliosis, no craniosynostosis; MRI brain cerebral atrophy; intellecutual disability (language delay); motor delay, hypotonia; no microcephaly; no craniosynostosis; metopic ridge; no nodular heterotopia; no hypoplastic corpus callosum; no spinal syrinx; midface hypoplasia; hypertrichosis; long palpebral fissures; ptosis; prominent eyes; no optic nerve abnormality; broad nasal bridge with hypoplastic alae nasi; downturned beaked mouth; no preaulicular pits; abnormal helix; no hearing loss; cleft palate; maloccclusion/open bite; open mouth/wide mouth; midline groove tongue; webbed neck; hydronephrosis/vesicoureteral reflux; stenosis of ureteropelvic junction; no cryptorchidism; cardiac anomaly; gastrointestinal anomaly, omphalocele; loose hypermobile joints; no vertebral segmentation abnormality; scoliosis; congenital hip dysplasia; talipes; no polydactyly
Inheritance	Isolated (sporadic)
Age/Examination	5y (5 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-04-02 14:56:11 +02:00 (CEST)
Date last edited	N/A