Table 1.   Summary of Results

Analyses Result Families
n (%)
Consanguinity
n (%)
Multiple Affected
n (%)
Homozygous Recessive
n (%)
Compound Recessive
n (%)
Autosomal Dominant
n (%)
Neurologic Phenotype
n (%)
Definite Diagnosis 21 (62%) 14 (66%) 12 (57%) 14 (66%) 1 (4%) 6 (28%) 8 (38%)
Candidate 6 (18%) 2 (33%) 2 (33%) 2 (33%) 2 (33%) 2 (33%) 3 (50%)
No Diagnosis 7 (20%) 3 (42%) 1 (14%) NA NA NA 2 (28%)
Total 34 (100%) 19 (55%) 15 (44%) 16 (47%) 3 (8%) 8 (23%) 13 (38%)

NA, not applicable.

RMMJ Rambam Maimonides Medical Journal Rambam Health Care Campus 2018 July; 9(3): e0018. ISSN: 2076-9172
Published online 2018 July 30. doi: 10.5041/RMMJ.10341