Phenotype #0000243412

Individual ID	00324916
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	birth 41w, weight 3084g (-1.5SD); weight 65kg (-0.3SD), length 165.6cm (-1.9SD), 13y9m-OFC 56.5 cm (+0.9SD); intellectual disability; motor developmental delay; 24-26m-walk; impaired speech development; impaired receptive language; muscular hypotonia; autistic features; posterior periventricular and deep white matter signal abnormality in both parietal lobes; gait abnormalities; attention deficit hyperactivity disorder; no seizures; strabism, Brown´s syndrome; visual impairment; agressive behaviour with puberty; 4y-obstructive sleep apnea, 12y-sleep study normal; myopia/hyperopia; no hearing impairment; no epicanthic folds; no thin upper lip; narrow maxillary arch, anterior crossbite with proclined maxillary incisors and mandibular jetting; no frontal bossing; open mouth appearance; no deep set eyes; no upslanting palpebral fissures; no congenital anomalies of the skull; no helix anomalies; no broad nasal bridge; neonatal feeding difficulties; left hip dysplasia; gastroesophageal reflux; patent foramen ovale, pulmonary valve insufficiency; difficulty swallowing, constipation, precocious puberty, anxiety, tricotillomania, high arched palate, narcolepsy/cataplexy
Inheritance	Isolated (sporadic)
Age/Examination	17y (17 years)
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