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Table 3 Phenotypic characteristics of DYRK1A

From: Clinical phenotype of ASD-associated DYRK1A haploinsufficiency

  Pub-SNV and UW-SNV (n = 42) Pub-CHR (n = 19) Total (n = 61)  
Phenotypic characteristic N Total % N Total % N Total % Sig (Fisher’s exact tests)
Intellectual disability or Global Developmental Delay 41 42 98 19 19 100 60 61 98 NS
Speech delay 42 42 100 19 19 100 61 61 100 NS
Motor difficulties 38 38 100 14 15 93 52 53 98 NS
Microcephaly 39 42 93 19 19 100 58 61 95 NS
Feeding difficulties 37 40 93 14 14 100 51 54 94 NS
Vision abnormalities 26 33 79 8 9 89 34 42 81 NS
Seizures 26 39 67 16 19 84 42 58 72 NS
ASD diagnosis 16 35 46 2 7 29 18 42 43 NS
Stereotyped behaviors 22 36 61 4 9 44 26 45 58 NS
Anxious behaviors 11 36 31 1 8 13 12 44 27 NS
Hyperactive behaviors 10 35 29 4 8 50 14 43 33 NS
Behavioral differences 35 42 83 7 19 37 42 61 69 NS
6+ symptoms including ASD 25 42 60 7 19 37 32 61 52 NS
6+ symptoms including broader behavioral difficulties 32 42 76 10 19 53 42 61 69 NS
  1. Frequency of phenotypic features in cases with disruptive SNVs (Pub-SNV and UW-SNV) to DYRK1A, published chromosomal rearrangements (Pub-CHR) to DYRK1A, and total combined cases. Totals reflect those with complete data. Groups did not significantly differ in gender ratio (Fisher’s exact test) or age (independent sample t test), p > 0.05. Fisher’s exact tests used for group comparisons, Sig significance, NS not significant