Phenotype #0000308007

Individual ID	00416240
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	-
Phenotype details	see paper; ..., no intrauterine growth retardation; intellectual disability/developmental delay/autism; no seizures; no hypotonia; no behavioral problems; no spastic quadriparesis; no ttention deficit hyperactivity disorder; no feeding/swallowing problems; no coloboma; no optic nerve atrophy/hypoplasia; no microphthalmia; no Peter’s anomaly; no iris anomalies; no blepharophimosis; no sensorineural hearing loss; no choanal atresia; no cleft lip; no ventricular septal defect; no patent foramen ovale; no patent ductus arteriosus; no anomalous pulmonary venous return; no gastroesophageal reflux disease; no duodenal atresia; no annular pancreas; no pyloric hypertrophy; no vesicoureteral reflux; no cystic kidney; no syndactyly; no hip dysplasia; no scoliosis; no lumbar lordosis; no third fontanel; no frontal bossing; no triangular face; no abnormal eyebrows; no hypotelorism; no hypertelorism; no upslanting palpebral fissures; no down-slanting palpebral fissures; no small palpebral fissures; no epicanthal folds; no deeply set eyes; no blepharaophymosis; no abnormal ears; no preauricular pits; no bulbous nose; no anteverted nares; no flat philtrum; no full lips; no small mouth; no furrowed tongue; no abnormal teeth; no broad alveolar ridges; no high arched palate; no micrognathia; no small nipples; no inverted nipples; no small hands; no syndactyly; no 5th finger clinodactyly; no digital anomalies; no nail hypoplasia; no abnormal palmar creases; no widow’s peak; no sacral hair tuft; no cafe au lait spots
Inheritance	Isolated (sporadic)
Age/Examination	14y (14 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-08-25 17:20:17 +02:00 (CEST)
Date last edited	N/A