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Table 1 Clinical, psychological, radiological features of the affected patients II.1 and III.1

From: CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NIFA genes

  II.1 (28 years) III.1 (6 ½ years)
Development parameters
Sitting age (months) 8 11
Walking age (months) 14 23
Speaking age (months) 12 30
Clinical findings
Macrocephaly Yes (P 97) No (P 90)
Muscle tonus Normal Normal
Seizures No No
Facies
Forehead Large Large
Strabismus Yes (divergens) Yes (divergens)
Nasal bridge Broad Broad
Ears form and position Normal Normal
Mouth form and occlusion Normal Normal
Eye distance 2.5 cm (intercantal) and 6 cm (interpupillar) 2.5 cm (intercantal) and 5.5 cm (interpupillar)
Cerebellar symptoms
Ataxic gait Yes Yes
Instability Yes Yes
Dysmetry Yes Yes
Dysartria Yes Yes
SARA score 6/40 11/40
Kidney and urinary tract defects Recurrent infections, hypoplasia of the right kidney Recurrent infections
Intelligence quotient (SON-R scale) 65 51
Brain MRI findings
Corpus callosum hypoplasia Hypoplastic Hypoplastic
Ventriculomegaly or hydrocephalus No No
Cerebellar abnormalities No No
  1. SARA Scale for the Assessment and Rating of Ataxia