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Table 1 Clinical features of COG5-CDG patients

From: COG5-CDG: expanding the clinical spectrum

 

Index

P1.1

P1.2

P1.3

P2

P3

P4

Ethnic origin

Iraqi

Moroccan

Moroccan

Moroccan

Chinese

Italian

Belgian

Consanguinity

+

+

+

+

-

+

-

Mental retardation

Moderate

Moderate

Severe

Severe

Mild

Severe

Severe

Delayed speech development

+

++

++

++

+

++

++

Delayed motor development

+

++

++

++

+

++

++

Cerebral/cerebellar atrophy

Cerebellar

-

NA

-

-

Both

-

Microcephaly

+

+

+

+

-

++

++

Hypotonia

+

+

+

+

+

++

++

Convulsions

-

-

-

-

-

-

+

Short stature

-

+

+

+

-

+

+

Liver involvement

-

-

-

-

+

+

-

Deafness

-

-

-

-

-

+

+

Blindness

-

-

-

-

-

+

+

Neurogenic bladder

-

-

-

-

-

+

+

Other

-

-

-

-

Contractures

-

Wrinkled skin

  1. NA: not available.