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Table 3 Phenotypes significantly and positively associated with deletion sizea

From: Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry

Phenotype

p value

Adjusted p valueb

OR [CI]

Walks unassisted

2.80e−20

9.27e−18

5.31 [3.76–7.64]

Crawls on hands and knees

1.55e−16

1.29e−14

4.23 [3.03–6.02]

Sits when placed

8.58e−18

9.47e−16

3.49 [2.64–4.68]

Climbs stairs standing up without help

1.28e−07

2.13e−06

2.69 [1.87–3.92]

Rolls over back to stomach

1.34e−12

7.38e−11

2.66 [2.04–3.51]

Descends stairs without help

4.24e−06

4.01e−05

2.54 [1.71–3.80]

Difficulties maintaining balance

4.65e−11

1.93e−09

2.25 [1.77–2.88]

Holds head up on his/her own

1.77e−09

5.30e−08

2.13 [1.67–2.74]

Vesicoureteral reflux

9.81e−09

2.32e−07

1.67 [1.42–2.03]

Deliberately releases object to a container

1.28e−03

4.87e−03

1.66 [1.22–2.26]

Transfers object between hands

4.81e−04

2.31e−03

1.62 [1.24–2.13]

Looks at, reaches and grasps distant objects

3.58e−04

1.74e−03

1.58 [1.23–2.04]

Dysplastic kidney

4.29e−05

2.79e−04

1.57 [1.29–1.99]

Coordination difficulties

2.74e−04

1.35e−03

1.56 [1.23–1.99]

Persistent fever related to kidney issues

2.18e−03

7.60e−03

1.53 [1.20–2.10]

Large fleshy hands

6.50e−18

9.47e−16

1.50 [1.37–1.65]

Sacral dimple

7.62e−14

5.05e−12

1.45 [1.32–1.60]

Persistent swelling of the hands and feetc

1.95e−07

2.94e−06

1.40 [1.24–1.60]

Floppy baby

1.27e−08

2.79e−07

1.39 [1.24–1.56]

Persistent swelling of the legsc

1.39e−05

1.05e−04

1.39 [1.21–1.64]

Polycystic kidney

2.52e−03

8.59e−03

1.39 [1.14–1.77]

Hydronephrosis

7.15e−06

6.07e−05

1.38 [1.21–1.60]

Abnormal cranial CT scan

9.69e−05

5.83e−04

1.38 [1.18–1.64]

Difficulties with motor planning

1.25e−02

3.35e−02

1.37 [1.07–1.76]

Neonatal hypotonia

9.90e−12

4.68e−10

1.35 [1.24–1.48]

Primary lymphedema

1.13e−03

4.55e−03

1.35 [1.14–1.64]

Recurrent urinary tract infections

7.80e−03

3.44e−03

1.34 [1.14–1.61]

Supernumerary teeth

1.42e−03

5.29e−03

1.33 [1.12–1.60]

Nasogastric tube (as a baby)

5.39e−03

1.59e−02

1.33 [1.10–1.65]

Heart murmur

3.53e−06

3.43e−05

1.32 [1.18–1.49]

Decreased gray matter

6.34e−04

2.87e−03

1.32 [1.13–1.57]

IV antibiotics needed

4.50e−05

2.86e−04

1.31 [1.15–1.49]

Febrile seizures

3.39e−07

4.51e−06

1.30 [1.18–1.45]

Increased kidney size

3.71e−03

1.18e−02

1.30 [1.10–1.56]

Neonatal feeding problems

1.92e−09

5.30e−08

1.29 [1.19–1.40]

Recurring ingrown toenails

7.32e−07

8.65e−06

1.29 [1.17–1.43]

Required special feeds as a baby

1.37e−05

1.05e−04

1.29 [1.16–1.46]

Irregular brain ventricles

1.29e−04

7.36e−04

1.29 [1.13–1.47]

Swallowing problems as a baby

7.24e−07

8.65e−06

1.27 [1.16–1.40]

Difficulty latching onto the breast

2.44e−07

3.51e−06

1.26 [1.16–1.38]

Aspiration

2.69e−05

1.90e−04

1.26 [1.13–1.40]

Congenital heart defects

3.63e−02

8.24e−02

1.17 [1.01–1.36]

Dysplastic or unusual toenails

8.68e−08

1.56e−06

1.24 [1.14–1.34]

Chronic bronchitis

9.70e−04

4.06e−03

1.24 [1.09–1.41]

Poor suck

5.34e−06

4.68e−05

1.23 [1.13–1.34]

Abnormal brain MRI

8.33e−06

6.72e−05

1.23 [1.12–1.35]

Decreased myelination

1.36e−03

5.11e−03

1.23 [1.09–1.40]

Apnea (obstructive)

2.36e−03

8.14e−03

1.23 [1.08–1.42]

Neonatal hyporeflexia

4.89e−03

1.46e−02

1.22 [1.07–1.41]

2 + pneumonias in a year

4.27e−03

1.31e−02

1.22 [1.07–1.40]

Poor reflexes

2.09e−04

1.13e−03

1.21 [1.09–1.33]

Neonatal breathing difficulties (NICU)

4.17e−03

1.30e−02

1.21 [1.07–1.39]

Congenital torticollis

1.65e−02

4.26e−02

1.21 [1.04–1.43]

Difficulty latching onto the bottle

1.39e−04

7.69e−04

1.20 [1.10–1.33]

Too tall for age

2.21e−04

1.16e−03

1.20 [1.09–1.32]

Weak muscles

1.06e−03

4.38e−03

1.20 [1.08–1.34]

Weak/soft tooth enamel

1.28e−03

4.87e−03

1.20 [1.07–1.34]

Arachnoid cyst

8.56e−03

2.40e−02

1.20 [1.05–1.38]

Strabismus

2.18e−04

1.16e−03

1.19 [1.09–1.31]

2 + serious sinus infections in a year

2.87e−03

9.49e−03

1.18 [1.06–1.31]

Tooth/teeth extraction

2.67e−03

8.94e−03

1.18 [1.06–1.31]

Dysplastic or unusual fingernails

5.38e−04

2.47e−03

1.17 [1.07–1.28]

Fatigues easily

1.93e−03

6.95e−03

1.17 [1.06–1.29]

Torticollis

1.25e−02

3.35e−02

1.17 [1.04–1.33]

Recurrent pneumonia

1.51e−02

3.98e−02

1.17 [1.03–1.34]

Ear tubes

1.22e−03

7.06e−04

1.16 [1.08–1.25]

Scoliosis

1.25e−02

3.35e−02

1.16 [1.03–1.31]

Bushy eyebrows

2.57e−03

8.69e−03

1.15 [1.05–1.26]

Teeth grinding (day or night)

1.90e−03

6.92e−03

1.15 [1.05–1.25]

2–3 toe syndactyly

8.34e−03

2.36e−02

1.15 [1.04–1.28]

Failure to gain weight normally as a baby

9.06e−03

2.50e−02

1.14 [1.03–1.27]

Gap between two front teeth

3.00e−03

9.83e−03

1.13 [1.04–1.23]

Seizures (currently)

7.23e−03

2.07e−02

1.13 [1.03–1.23]

Daytime teeth grinding

4.66e−03

1.42e−02

1.12 [1.04–1.22]

Difficulty regulating body temperature

4.10e−03

1.29e−02

1.12 [1.04–1.21]

  1. CI, confidence interval; CT, computerized tomography; IV, intravenous, MRI, magnetic resonance imaging; NICU, neonatal intensive care unit; OR, odds ratio
  2. aFor developmental phenotypes, positive associations indicate that larger deletions are associated with delayed acquisition
  3. bBenjamini-Hochberg false discovery rate (FDR) adjusted p values
  4. cThese questions refer to individuals with lymphedema
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Molecular Autism

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