All individuals with variants in gene PTK2

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00324917 Pat21 PubMed: Lessel 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - NDD birth 41w, weight 3670g (-0.2SD), length 51cm (-0.9SD), OFC 31.5cm (-3.4SD); weight 18kg (-0.5SD), length 112cm (+0.1SD), OFC 45cm (-5.0SD); intellectual disability; motor developmental delay; 22m-walk; impaired speech development; impaired receptive language; no muscular hypotonia; autistic features; MRI cerebral normal; no gait abnormalities; attention deficit hyperactivity disorder; no seizures; no strabism; no visual impairment; no agressive behaviour; no abnormal respirations; no myopia/hyperopia; no hearing impairment; epicanthic folds; no thin upper lip; malocclusion of teeth; 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; no neonatal feeding difficulties; no skeletal anomalies; gastroesophageal reflux; no heart anomalies 1 1 Johan den Dunnen
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