Skip to main content

Table 1 Comparison of phenotypes in Dutch and Iranian families

From: B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype–phenotype associations in the muscular dystrophy-dystroglycanopathies

  Family A   Family B     
II-1 II-2 IV:1 IV:6 IV:3 V-2 V:1
Age at last evaluation (years) 14 8 36 41 34 9 8.5
Gender M M M M M F F
Ancestry Dutch Dutch Iranian Iranian Iranian Iranian Iranian
Consanguinity No No Yes Yes Yes Yes Yes
Weight (kg) 34 (11 years) 20 (5.4 years) 62 60 57 40 32
Height (cm) 143 (11 years) 114.5 (5.4 years) 165 155 160 142 133
Head circumference (cm) 52 (11 years) 51.4 (5.4 years) Normal Normal Normal Normal Normal
Cognition and ID Mild Mild Moderate to Severe Mild Mild Mild to Moderate Mild to Moderate
IQ level 55 68 Below 50 ~50 ~50 ~50 ~50
Speech Dysphasia Delayed and poor intelligibility Only a few words Delayed Delayed Incomprehensible but improving Incomprehensible
Motor function Delayed Delayed Gait abnormality Delayed Delayed Delayed Delayed
Epilepsy No No Yes Yes Yes Yes Yes
Muscular abnormality/CK level No/slightly elevated No/normal No/normal No/normal No/normal No/normal No/Not done
Muscle biopsy Normal Not done Not done Not done Not done Not done Not done
Vision examination Normal Normal Normal Normal Normal Normal Normal
Brain imaging MRI: non-specific white matter changes that resolved later Not done Normal CT scan Normal CT scan Normal CT scan MRI: non-specific white matter changes that resolved later Not done
Back to article page

Genome Medicine

ISSN: 1756-994X

Contact us