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Table 1 Clinical phenotypes of proband, and their presence/absence among reported cases of CS and dup16p11.2

From: Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication

   Reported findings in patients
Proband’s clinical findings Cohen syndrome dup16p11.2
Pregnancy/birth Reduced fetal activity + -
Low birth weight + -
Feeding difficulty + -
Neurocognitive DD/IDab + +
ASDb + +
Happy/friendly dispositiona + -
Hypotoniab + +
Verbal apraxia + -
Motor delayb + +
Poor motor coordination + +
Brisk reflexes + -
Build/stature Underweightb (≤4y/o) - +
Short stature + +
Truncal obesitya (childhood) + -
Cranium/hair Microcephalyab (postnatal) + +
Flat occiput - -
Double hair whorls - -
Low hairlinea (anterior) + +
Thick haira + -
Forehead/face/nose Narrow forehead + -
Micrognathia/mild retrognathia + +
Malar hypoplasia + -
Depressed nasal root - -
Short triangular nose - -
Mouth/oral region Small mouth + -
Thick upper lip + -
Short/smooth philtruma + +
High-arched palate + +
Thickened alveolar ridges - -
Prominent upper central incisors + -
Eye/eye globe/vision Hypertelorism + +
Ptosis (bilateral) + -
Blepharophimosis - -
Wave shaped eyelidsa + -
Thick eyebrowa + -
Long/thick eyelashesa + -
Myopiaa + +
Diffuse retinal dystrophya + -
Ears/hearing Large ears + +
Posteriorly rotated ears + +
Auricular pits + +
Hearing loss (unilateral sensorineural) + -
Abdomen/thorax Diastasis recti - -
Hypoplastic nipples - -
Extremities/musculoskeletal Slender extremities/tapered fingersa + +
Joint hypermobilitya + +
Club foot (bilateral) + -
Sandal gap + +
Scoliosis + +
Genitalia/urinary tract Hypospadias - +
Cryptorchidism + +
Haematology/Immunology Chronic anemia + -
Recurrent infection (UTI) + -
Intermittent neutropeniaa + -
  1. aDiagnostic criteria for CS
  2. bMost observed findings among patients with dup16p11.2