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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 findingsCohen syndromedup16p11.2
Pregnancy/birthReduced fetal activity+-
Low birth weight+-
Feeding difficulty+-
NeurocognitiveDD/IDab ++
ASDb ++
Happy/friendly dispositiona +-
Hypotoniab ++
Verbal apraxia+-
Motor delayb ++
Poor motor coordination++
Brisk reflexes+-
Build/statureUnderweightb (≤4y/o)-+
Short stature++
Truncal obesitya (childhood)+-
Cranium/hairMicrocephalya b (postnatal)++
Flat occiput--
Double hair whorls--
Low hairlinea (anterior)++
Thick haira +-
Forehead/face/noseNarrow forehead+-
Micrognathia/mild retrognathia++
Malar hypoplasia+-
Depressed nasal root--
Short triangular nose--
Mouth/oral regionSmall mouth+-
Thick upper lip+-
Short/smooth philtruma ++
High-arched palate++
Thickened alveolar ridges--
Prominent upper central incisors+-
Eye/eye globe/visionHypertelorism++
Ptosis (bilateral)+-
Blepharophimosis--
Wave shaped eyelidsa +-
Thick eyebrowa +-
Long/thick eyelashesa +-
Myopiaa ++
Diffuse retinal dystrophya +-
Ears/hearingLarge ears++
Posteriorly rotated ears++
Auricular pits++
Hearing loss (unilateral sensorineural)+-
Abdomen/thoraxDiastasis recti--
Hypoplastic nipples--
Extremities/musculoskeletalSlender extremities/tapered fingersa ++
Joint hypermobilitya ++
Club foot (bilateral)+-
Sandal gap++
Scoliosis++
Genitalia/urinary tractHypospadias-+
Cryptorchidism++
Haematology/ImmunologyChronic anemia+-
Recurrent infection (UTI)+-
Intermittent neutropeniaa +-
  1. aDiagnostic criteria for CS
  2. bMost observed findings among patients with dup16p11.2