| Phenotype details |
moderate; no brachycephaly; low anterior hairline; large anterior fontanelle, 2 posterior fontanelles; no arched eyebrows, synophrys, no long eyelashes, hypertelorism, telecanthus, no ptosis, no myopia, no lacrimal duct obstruction, hooding of lids; depressed nasal bridge, anteverted nostrils, long philtrum, smooth philtrum, broad/bulbous nasal tip; no thin upper lip, no downturned corners mouth, no high arched palate, no gap between upper incisors, delayed loss of primary dentition, double tooth in front, micrognathia/retrognathia; Short upturned nose; no cutis marmorata, hirsutism, nevus flameus; small hands, proximally set thumbs, no clinodactyly 5th finger, short 5th finger; small feet, no syndactyly toes; no caridac defects; no genitourinary defects; feeding problems in infancy ; hearing loss; no anomalies CNS; no seizures ; moderate intellectual disability; pleasant, anxious; speech 1st words after 2 years, reasonable understanding, speaks in short grammatically immature sentences; walk-30m; birth 41w, birth weight 2608g (SD -1,3)), OFC 30.5cm (SD -3); weight 3.3y 10.8kg (Z -2,7), height 1.7y 71.1cm (Z -3,1), OFC 47.3cm (SD -1,1); no obesity |
