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Table 2 Summary of the clinical presentation of patients with DYRK1A mutations

From: Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature

  Patient 1 Patient 2 SNV, Splice, FS (33) Rearrangements (19) Total (54)
Age at last reported assessment 22 months 13 years 21 month - 59 years 17 months - 33 years  
IUGR / prenatal findings IUGR, enlarged cisterna magna - 17 / 26 15 / 16 33 / 43
Head circumference at birth (<-2 SD) - 2.5 SD   13 / 22 15 / 16 29 / 39
Low birth weight (<-2 SD) - 2.5 SD - 13 / 27 14 / 19 28 / 47
Length at birth (<-2 SD) - - 12 / 21 12 / 15 24 / 36
Feeding difficulties + + 28 / 30 14 / 14 44 / 46
Microcephaly (<-2 SD) - 4.6 SD - 1.3 SD 26 / 31 17 / 18 44 / 51
Weight (<-2 SD) - 3.3 SD +1.7 SD 7 / 26 12 / 17 20 / 45
Height (<-2 SD) - 2.2 SD +2 SD 7 / 28 12 / 18 20 / 48
Global developmental delay + + 33 / 33 18 / 18 53 / 53
Intellectual disability   + 31 / 32 19 / 19 51 / 52
Speech delay / absence + + 32 / 32 17 / 17 51 / 51
Motor delay / late walking + + 22 / 22 11 / 12 35 / 36
Abnormal gait   + 18 / 20 7 / 9 26 / 30
Behavioral issues - + 29 / 31 9 / 11 39 / 44
Stereotypies - + 20 / 25 6 / 9 27 / 36
Autism spectrum disorder   - 14 / 27 2 / 7 16 / 35
Anxiety - + 9 / 18 1 / 5 11 / 24
Hyperactivity / ADHD - - 5 / 21 3 / 7 8 / 30
Febrile seizures - + 17 / 29 13 / 15 31 / 46
Seizures / epilepsy - + 14 / 28 13 / 17 28 / 47
Brain abnormalities (MRI) + Normal 18 / 24 13 / 16 32 / 42
Enlarged ventricles +   10 4 22a
General / cortical atrophy +   8 6 17a
Thin brainstem -   2 2 13a
Hypoplastic corpus callosum -   2 4 9a
Optic disk/nerve anomaly Optic disc pallor - 5 1 7
Vision abnormalities Visual impairment - 16 / 21 8 / 9 25 / 32
Dysmorphic facies + + 32 / 33 19 / 19 53 / 54
Abnormalities of the hands or feet Small feet, toe brachydactyly, proximal placement of first toes Tapering fingers, high arched feet 15 / 16 8 / 10 25 / 28
Abnormalities of the spine or chest - Mild pectus excavatum 6 / 8 4 / 7 11 / 17
Contractures Bilateral: third and fifth digits, ankles - 3 / - 1 / - 5 / -
Gastrointestinal symptoms GERD, vomiting - 13 / - 3 / - 17 / -
Genitourinary Bilateral hydronephrosis - 5 / - 3 / - 9 / -
Cardiac PDA - 2 / - 5 / - 8 / -
Recurrent infections + - 7 / - 3 / - 11 / -
  1. SNV single nucleotide variant, FS frameshift, mo Months, yrs Years, IUGR intrauterine growth restriction, SD standard deviation, ADHD attention deficit hyperactivity disorder, MRI magnetic resonance imaging, GERD gastroesophageal reflux disease, PDA patent ductus arteriosus
  2. a One paper (Ji et al [21]) did not assign the type of abnormalities to each patient, but gave a total prevalence for their cohort. These values have been added to our total, but were not included in the group subtotals