Table 2.
Proportions of each phenotype. Each proportion is out of the total number of individuals who provided information about that specific phenotype. The total may not add up to 26 if not all individuals provided information about the phenotype listed.
| Phenotypes (Neul’s Major Criteria Bolded) | Proportions of Individuals with Phenotypes |
|---|---|
| Partial or complete purposeful loss of hand skills | 1/26 (4%) |
| Partial or complete loss of acquired spoken language | 5/26 (19%) |
| Gait abnormalities | 21/26 (81%) |
| Hand stereotypies | 18/26 (69%) |
| Breathing abnormalities | 5/26 (19%) |
| Bruxism while awake | 12/26 (46%) |
| Impaired sleeping patterns | 6 /25 (24%) |
| Impaired muscle tone (hypo/hypertonia) | 25/26 (96%) |
| Small, cold hands/feet | 13/26 (50%) |
| Vasomotor disturbances | 8 /26 (31%) |
| Scoliosis or kyphosis | 10/26 (38%) |
| Growth Retardation | 9 /25 (36%) |
| Inappropriate laughing/screaming spells | 15/26 (58%) |
| Diminished response to pain | 13/24 (54%) |
| “Eye pointing” | 6/26 (23%) |