| Phenotype details |
see paper; ..., pregnancy polyhydramnios; birth 41+2w; neonatal suctioning, brief oxygen required after delivery, jaundice treated with phototherapy; birth length 47cm (P16, -1.0 SD), weight 2920g (P17, -1.0 SD), OFC 35cm (P57, 0.2 SD); length 102cm (<P1, -3.0 SD), weight 15kg (<P1, -2.5 SD), OFC 51cm (P39, -0.3 SD); global developmental delay; speech delay, eEarly language milestones on time, then delayed speech language acquisition; Yes - Gross motor milestones were delayed, currently still has fine motor delays; mild intellectual disability; no developmental regression ; no microcephaly; ADHD, aggressive behavior, emotional lability, abnormal social behavior with peers, sensitivity to stimuli; autism; 12m-sit; 20m-walk; 2y-first words; no seizure; EEG abnormal due to frequent occipital sharp waves over the right occipital region with rare bilateral synchronous occipital discharges; MRI brain cerebellar tonsillar ectopia without hydrocephalus, suggestive of Chiari I malformation; normal coordination; hypotonia; frontal bossing, short and upturned nose, broad nasal bridge, epicanthal folds, low set left ear, high anterior hairline, and temporal narrowing; plagiocephaly, relative macrocephaly; feeding difficulties as an infant, history of constipation; no hearing loss; farsightedness, alternating exotropia; no nystagmus; Wolff-Parkinson-White syndrome; frenulectomy; bilateral hip dysplasia s/p corrective surgery; congenital torticollis; normal spine morphology |
