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Table 1 Summary of clinical features in the cohort of Vargiami et al. [17] and DeScipio et al. [3], with distinction of patient nr 7, patient with missense mutation in ZMYND11 gene [1] and our index patient

From: Molecular and clinical characterization of new patient with 1,08 Mb deletion in 10p15.3 region

  DeScipio et al., Varigiami et al. Patient 7 from DeScipio et al. cohort with the closest overlapping deletion Patient with mutation in ZMYND11 gene described by Cobben et al. Patient with mutation in ZMYND11 gene described by Moskowitz et al. Our patient
sex Male:Female 8:6 Male Male Female Female
Age at report 1y9m – 48y 5y 7y 24y 5y
Birth weight < 3rd centile – 25th centile 3402 g (25th centile) 1867 g (<3rd centile) 3740 g (50th centile) 3370 g (25th centile)
Height <3rd centile – 75th centile 25th centile < 3rd centile Not provided < 3rd centile
Weight <3rd centile – > 95th centile 75th centile Not provided Not provided < 3rd centile
Head circumference 10th - >95th centile 75th centile Microcephaly (<3rd centile) Microcephaly (<3rd centile) 25th centile
Cognitive/behavioral/developmental differences 13/13 Hyperactivity Severe developmental delay Severe global developmental delay, able to understand to some degree and can communicate using a few sings, happy disposition, smiles almost constantly Mild ID, temper tantrums, aggression
Speech delay 10/10 Severe One or two word sentences at 5y At the age of 7 years uses only two words Non verbal, makes sounds Severe Single words at 5y
Motor delay 11/11 Started to walk independently at 2,5y Unable to run well or ride a bicycle at 5y At the age of 7 years walks behind a walking device Severe motor delay, ataxic, wide base gait, walks only short distances with assistance. Started to walk independently at 2y Clumsy running at 5y
Craniofacial dysmorphic features 9/12 Inconsistent Plagiocephaly, hypertelorism, prominent columella, hypoplastic alae, Slight metopic ridge, low-set ears, hypopigmentation of the right eyebrow and eyelashes, telecanthi, epicanthic folds, slant-up and narrowing of palpebral fissures, broad nasal bridge, small nares with broad alaenasi, smooth philtrum with thin upper lip and everted lower lip, widely-spaced teeth, retrognathia. Bulbous nose with wide base and ridge,, deep set eyes, long palpebral fissures, epicanthal fold, prominent jaw Flat face, mild synophrys, long eyelashes, long palpebral fissures, epicanthal folds, wide nasal ridge, low set, posteriorly rotated and slightly protruding ears, underdeveloped antitargus, short chin
Brain abnormalities 6/8 cortical atrophy (4), hydrocephalus (1), arachnoid cyst (1) No Delayed myelination Cerebral atrophy and delayed myelination without evidence of focal abnormality Chiari malformation type I with spinal cord edema requiring surgical decompression
Hypotonia 7/13 No Yes Yes in infancy
Hand/ft anomalies 5/13 5th finger clinodactyly, fetal pads, pes planus, clinodactyly of toes 3,4,5 Valgus feet, short metacarpals of both hands and a brachymesophalanx V, broad hands with deep palmar creases and pillowing of the areas between the grooves, short tapering fingers and broad feet with short toes and small nails 5th finger clinodactyly, small feet 5th finger clinodactyly pes planus
Seizures 3/9 Partial complex Absence seizures Severe intractable seizures Absence seizures
Cardiac anomalies 2/11 bicuspid aortic valve, patent foramen ovale, murmur Systolic murmur Spontaneously closed VSD None Tetralogy of Fallot with pulmonary atresia
Other features   Diaphragmatic hernia, mildly narrow palate, shawl scrotum and wide-based gait Feeding difficulties requiring supplementary tube feeding, fusion of the 2nd and 3rd vertebrae and compression of the myelum, pyloric stenosis non-descended testes and urethral stenosis, inverted and widely-spaced nipples, dimples on elbows and knees Neurogenic bladder Severe eosinophilic gastroesophagitis, gastroesophageal reflux Asthma, multiple food, environmental and medication allergies Myopia Bilateral moderate hearing impairment (family history positive for hearing impairment) wide–base gait protein C deficiency