Phenotype #0000243411

Individual ID	00324915
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	birth 37w, weight 2750g (-1.0SD), length 46.5cm (-1.7SD),, OFC 33cm (-1.0SD); weight 41.7kg (-1.7SD), length 148.7cm (-1.96SD), OFC 52cm (-1.93SD); intellectual disability; motor developmental delay; 16m-walk; impaired speech development; impaired receptive language; no muscular hypotonia; autistic features; no gait abnormalities; attention deficit hyperactivity disorder; no seizures; no strabism; no visual impairment; agressive behaviour at puberty only; no abnormal respirations; no myopia/hyperopia; no hearing impairment; epicanthic folds; thin upper lip; crowded teeth, large incisors, multiple cavities; no frontal bossing; no open mouth appearance; deep set eyes; upslanting palpebral fissures; no congenital anomalies of the skull; overfolded helix, short; broad nasal bridge; no neonatal feeding difficulties; 5th finger bilateral clinodactyly, 4th finger clinodactyly right; no gastroesophageal reflux; significant anxiety, widow's peak, hypertelorism, skin picking, trichotillomania, laterally arched eyebrows
Inheritance	Isolated (sporadic)
Age/Examination	15y4m (15 years, 4 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-12-24 16:46:49 +01:00 (CET)
Date last edited	N/A