Groupa characteristicsb | T-PSMB1 (n = 1) | T-DLL1 (n = 23) | T-AFDN (n = 16) | T-PDE10A (n = 10) | T-QKI (n = 7) | T-PRKN (n = 20) | T-MAP3K4 (n = 6) | T-R (n = 10) | Total terminal (n = 93) | I-6q27 (n = 5) | I-6q26 (n = 6) |
---|---|---|---|---|---|---|---|---|---|---|---|
Sex (female/male) | Male | 14/9 | 9/7 | 9/1 | 4/3 | 10/10 | 6/0 | 9/1 | 61/32 | 2/3 | 2/4 |
Prolonged neonatal jaundice | n.a | 0/3 | 0/5 | 1/3 | 1/4 | 6/15 | 1/4 | 0/4 | 9/38 | 0/0 | 0/5 |
Low birth weight (< p10) |  +  | 0/5 | 3/9 | 0/5 | 1/6 | 5/15 | 1/4 | 2/3 | 13/48 | 0/1 | 1/4 |
Short stature (< p10) |  +  | 1/7 | 1/9 | 2/7 | 0/5 | 6/15 | 1/3 | 3/3 | 15/50 | 0/1 | 0/2 |
Head circumference < p10/normal/ > p90 |  < p10 | 5/4/2 | 2/5/1 | 4/2/2 | 5/1/1 | 13/3/0 | 1/1/0 | 3/0/1 | 34/16/7 | 1/0/0 | 0/2/0 |
Plagiocephaly | n.a | 2/4 | 2/6 | 0/1 | 2/3 | 7/13 | 2/4 | 1/3 | 16/34 | 0/0 | 1/4 |
Hypertelorism | n.a | 3/8 | 4/8 | 3/4 | 4/6 | 8/18 | 2/3 | 4/8 | 28/55 | 1/2 | 1/3 |
Vision problems | n.a | 2/4 | 5/6 | 1/5 | 4/5 | 10/16 | 3/4 | 5/5 | 30/45 | 0/0 | 2/4 |
  Mild vision problems | n.a | 1/2 | 3/5 | 0/1 | 3/4 | 6/10 | 2/3 | 1/5 | 16/30 | 0/0 | 1/2 |
Hypermetropia | n.a | 0/4 | 2/6 | 0/4 | 4/5 | 5/17 | 3/4 | 0/4 | 14/44 | 0/0 | 2/4 |
Nystagmus | – | 0/5 | 2/8 | 0/5 | 2/6 | 3/18 | 2/4 | 2/6 | 11/53 | 0/1 | 1/4 |
Strabismus |  +  | 1/5 | 4/8 | 1/5 | 3/6 | 8/18 | 2/4 | 4/6 | 24/53 | 1/1 | 0/4 |
Abnormal eye morphology | n.a | 0/3 | 1/5 | 0/4 | 0/4 | 7/16 | 0/4 | 4/6 | 12/42 | 0/0 | 0/3 |
Dysplastic outer ear |  +  | 5/7 | 3/8 | 5/6 | 3/5 | 7/15 | 0/4 | 3/7 | 27/53 | 1/2 | 0/3 |
Cleft lip and/or palate | n.a | 0/9 | 0/6 | 0/5 | 0/5 | 1/13 | 0/4 | 2/7 | 3/49 | 0/1 | 0/2 |
Dental problems | n.a | 2/3 | 1/4 | 1/1 | 2/5 | 7/15 | 0/3 | 0/3 | 13/34 | 0/1 | 0/3 |
Feeding difficulties | n.a | 3/3 | 3/6 | 2/2 | 2/5 | 13/16 | 3/4 | 2/3 | 28/39 | 0/0 | 2/3 |
Constipation | n.a | 0/3 | 2/7 | 1/1 | 1/3 | 5/16 | 2/4 | 1/3 | 12/37 | 0/0 | 1/3 |
Anal abnormality | n.a | 0/3 | 0/6 | 0/1 | 1/3 | 4/14 | 0/4 | 0/3 | 5/34 | 0/0 | 0/3 |
Respiratory problems | n.a | 1/3 | 2/7 | 1/2 | 0/3 | 4/15 | 0/4 | 2/4 | 10/38 | 0/0 | 1/4 |
Recurrent infections | n.a | 2/4 | 1/5 | 0/1 | 2/3 | 5/11 | 2/4 | 1/3 | 13/31 | 0/0 | 1/3 |
Congenital heart defectc | n.a | 0/3 | 1/6 | 3/5 | 0/6 | 6/17 | 0/4 | 2/4 | 12/45 | 0/0 | 1/5 |
Kidney abnormality | n.a | 0/3 | 2/7 | 0/3 | 1/3 | 2/16 | 1/4 | 1/4 | 7/40 | 1/1 | 1/4 |
Abnormal genitals in females | n.a | 0/1 | 1/6 | 0/1 | 1/3 | 3/10 | 0/4 | 1/3 | 6/28 | 0/0 | 0/2 |
Sacral dimple | n.a | 0/4 | 3/5 | 1/2 | 3/3 | 11/14 | 2/4 | 3/3 | 23/35 | 0/0 | 1/3 |
Spina bifida | n.a | 0/3 | 0/6 | 0/2 | 0/3 | 3/12 | 0/4 | 2/5 | 5/35 | 0/0 | 1/4 |
Spinal cord abnormality | n.a | 1/4 | 0/4 | 2/5 | 3/3 | 6/14 | 1/4 | 2/4 | 15/38 | 0/0 | 0/3 |
Abnormal vertebral morphology |  +  | 1/5 | 1/7 | 0/2 | 1/3 | 1/11 | 2/5 | 1/4 | 8/38 | 0/0 | 0/3 |
Scoliosis | n.a | 1/6 | 0/6 | 0/2 | 2/4 | 3/14 | 0/4 | 0/3 | 6/39 | 0/0 | 1/5 |
Hip dysplasia | n.a | 0/1 | 0/1 | 1/2 | 0/1 | 5/10 | 0/1 | 0/1 | 6/17 | 0/0 | 0/1 |
Hypermobility of the joints | n.a | 3/4 | 9/11 | 2/3 | 3/5 | 8/17 | 4/4 | 3/6 | 32/50 | 1/1 | 0/3 |
Pes planus | n.a | 0/4 | 1/7 | 0/3 | 2/5 | 2/15 | 0/4 | 0/5 | 5/43 | 0/0 | 0/5 |
Positional foot deformity | n.a | 0/4 | 1/7 | 2/3 | 1/5 | 1/15 | 0/4 | 3/5 | 8/43 | 0/0 | 1/5 |
Capillary haemangioma | n.a | 0/5 | 1/5 | 0/3 | 0/4 | 1/13 | 1/4 | 0/3 | 3/37 | 0/1 | 0/4 |
Hypopigmentation of the skin | n.a | 0/5 | 0/5 | 1/3 | 0/4 | 1/13 | 1/4 | 0/3 | 3/37 | 0/1 | 0/4 |
Brain abnormalities on MRI or CT |  +  | 14/17 | 11/12 | 9/10 | 6/7 | 17/18 | 5/5 | 9/9 | 72/79 | 4/5 | 2/2 |
  Ventriculomegaly and/or hydrocephaly |  +  | 10/14 | 10/11 | 7/9 | 4/6 | 9/17 | 4/5 | 6/9 | 51/72 | 4/5 | 1/2 |
  Abnormality of the cerebellum | – | 0/14 | 4/11 | 1/9 | 2/6 | 5/17 | 3/5 | 3/9 | 18/72 | 2/5 | 0/2 |
  Corpus callosum abnormality |  +  | 4/14 | 1/11 | 5/9 | 3/6 | 8/17 | 2/5 | 7/9 | 31/72 | 3/5 | 0/2 |
  Cortical dysplasia | – | 4/14 | 1/11 | 2/9 | 2/6 | 4/17 | 1/5 | 1/9 | 15/72 | 4/5 | 0/2 |
Seizures and/or epilepsy |  +  | 5/12 | 3/10 | 4/6 | 6/7 | 15/19 | 3/4 | 7/7 | 44/66 | 3/5 | 1/3 |
  Focal-onset |  +  | 1/5 | 2/3 | 0/4 | 4/6 | 5/15 | 2/3 | 5/7 | 20/44 | 3/3 | 0/1 |
  Generalised-onset | – | 3/5 | 1/3 | 0/4 | 5/6 | 4/15 | 2/3 | 1/7 | 16/44 | 0/3 | 0/1 |
Hypotonia |  +  | 7/10 | 7/9 | 6/7 | 6/6 | 15/16 | 3/4 | 5/7 | 50/60 | 1/1 | 2/5 |
Hypertonia | n.a | 0/3 | 1/5 | 0/1 | 0/1 | 2/11 | 2/4 | 2/4 | 7/29 | 0/0 | 0/3 |
Ataxia | n.a | 2/4 | 1/5 | 1/1 | 1/3 | 2/10 | 2/3 | 2/3 | 11/29 | 1/1 | 0/3 |
Torticollis | n.a | 2/3 | 0/5 | 0/1 | 1/3 | 3/12 | 1/4 | 1/3 | 8/31 | 0/0 | 0/3 |
Balance problems | n.a | 3/4 | 2/6 | 2/2 | 2/3 | 11/13 | 3/4 | 2/3 | 25/35 | 0/0 | 1/3 |
Developmental delay (Table 3) |  +  | 14/16 | 9/11 | 5/6 | 6/6 | 15/15 | 4/4 | 6/6 | 60/65 | 4/4 | 2/5 |
Sleeping problems | n.a | 1/3 | 4/7 | 0/1 | 3/4 | 7/14 | 2/4 | 1/3 | 18/36 | 0/0 | 2/4 |
  Insomnia | n.a | 1/1 | 4/4 | 0/0 | 1/3 | 4/7 | 2/2 | 0/1 | 12/18 | 0/0 | 2/2 |
Social behaviour | n.a | 2/6 | 4/6 | 1/3 | 3/5 | 10/15 | 2/4 | 3/3 | 25/42 | 0/0 | 3/3 |
Helpful behaviour | n.a | 1/6 | 2/6 | 1/3 | 2/5 | 5/15 | 1/4 | 0/3 | 12/42 | 0/0 | 1/3 |
Easily upset | n.a | 3/6 | 3/6 | 1/3 | 2/5 | 4/15 | 2/4 | 2/3 | 17/42 | 0/0 | 1/3 |
Hyperactivity | n.a | 3/6 | 1/6 | 1/3 | 1/5 | 6/15 | 1/4 | 2/3 | 15/42 | 0/0 | 2/3 |