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A tabular representation of the clinical history and phenotype

by Hugh Rienhoff — last modified Oct 08, 2007 02:01 PM

This is a tabular form of the clinical data created by Dr. George Church that provides a quick visual summary of the clinical and phenotypic data and potentially allows machine-learning algorithms to analyze cases.

Year

Assay

Result

Normal

OK

Percentile

Normal

-0.52

nuchal translucency

3 mm

2  to 2.5

N

 

 

-0.48

Chorionic_villus

46,XX

46,XX

Y

 

 

-0.33

echocardiography

normal

normal

Y

 

 

0.00

birth

C-section

 

Y

 

 

1.9E-6

Apgar

9

7 to 10

Y

 

 

5.7E-6

Weight

2.92

2.5 to 4

Y

45%

15 to 79%

9.5E-6

Apgar

9

7 to 10

Y

 

 

2E-5

arachnodactyly

ratio?

 

N

 

 

2E-5

feet

mm?

 

N

 

 

2E-5

digits

Contracture

 

N

 

 

2E-5

facial midline

Nevus_flammeus

 

N

 

 

2E-5

skeletal muscles

Hypotonia

 

N

 

 

2E-5

skeletal muscles

hypoplasia

 

N

 

 

0.25

weight

 

 

N

 

 

0.25

gross motor

delayed

 

N

 

 

0.67

gross motor

1 to 6 mo

8 mo

N

 

 

0.67

fine motor

8 mo

8 mo

Y

 

 

0.67

weight

 

 

N

1%

15 to 79%

0.67

head circumference

 

 

Y

25%

15 to 79%

1.33

height

 

 

N

5%

15 to 79%

1.33

crawl,roll

N

Y

N

 

 

1.33

foot arch

bilateral pes planus

 

 

 

 

1.33

sternum

pectus carinatum

 

 

 

 

1.33

nipples

inverted bilateral

 

N

 

 

1.33

joints

hyperextensibility, multiple

 

N

 

 

1.33

 

hypognathia

 

N

 

 

1.33

 

hypertelorism

 

N

 

 

1.33

outer canthal distance

7.8 cm

 

 

 

 

1.33

inner canthal distance

2.8 cm

 

 

 

 

1.33

skin texture, tension

 

 

Y

 

 

1.33

wound healing

 

Y 

Y

 

 

1.33

Ears

well-placed/formed

Y 

Y

 

 

1.33

Uvula

bifid

 

N

2%

98%

1.33

hard and soft palate

intact

Y 

 

 

 

1.33

metopic ridge

small

 

 

 

 

1.33

sclerae

blue

 

Y

 

 

1.33

appendicular & axial muscles

decreased bulk, low tone

 

N

 

 

1.33

strength 20%

20%

100%

N

 

 

1.33

proximal phalangeal joints of right digits 2 & 3

contractures

N 

N

 

 

1.33

echo aortic valve annulus

10.4 mm

 

 

 

 

1.33

kyphoscoliosis.

N

N

Y

 

 

2.00

hip, thigh

Gowers' sign

 

N

 

 

2.00

neurocognitive

 

Y 

Y

 

 

2.33

echo aortic valve annulus

11 mm

 Y

 Y

 

 

2.33

weight

20

 

N

1%

15 to 79%

2.33

head circumference

 

Y 

 Y

25%

15 to 79%

2.33

height

 

Y 

 Y

10 to 25%

15 to 79%

2.33

strength

1 to 2

scale of 5

 N

 

 

2.33

reflexes

diminished

N 

 Y

 

 

3

weight

21 lb

 

N

 

 

3

language development

4.5

Y

4.5

 

 

3

cervical spine X-ray

C2 psuedo-subluxation  

 Y

Y

 

 

3

gait

hip-waddle

N 

N

 

 

 

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