Table 4:
Distinguishing characteristics between TUBB3 R262H syndrome and other syndromes in the differential diagnosis. AD: autosomal dominant, AR: autosomal recessive, + finding present, − finding not reported, +/− present in some individuals.
| TUBB3 R262H | TUBB3 E410K | TUBB3 R262C | Classic Moebius | Carey-Fineman-Ziter syndrome | Arthrogryposis, distal, 5D | Marden Walker | |
|---|---|---|---|---|---|---|---|
| Phenotype MIM # | 600638 | 600638 | 600638 | 157900 | 254940 | 605896 | 248700 |
| Gene | TUBB3 | TUBB3 | TUBB3 | N/A | MYMK | ECEL1 | PIEZO2 |
| Inheritance | De novo | De novo | AD | sporadic | AR | AR | sporadic |
| Ptosis | + | + | +/− | − | +/− | + | + |
| Limited Horizontal Eye Movements | + | + | +/− | + | +/− | +/− | − |
| Limited Vertical Eye Movements | + | + | + | − | − | +/− | − |
| Facial Weakness | + | + | − | + | + | − | + |
| Facial dysmorphisms | + | + | − | +/− | + | − | + |
| Micrognathia | − | − | − | + | + | − | + |
| Robin sequence | − | − | − | +/− | + | − | − |
| Intellectual Disability | + | + | − | +/− | − | − | + |
| Congenital Contractures | + | − | − | +/− | + | + | + |
| Progressive peripheral axonal neuropathy | + | + | − | − | − | − | − |
| Myopathy | − | − | − | − | + | − | − |
| Cryptorchidism | + | + | − | − | + | − | − |
| Hypogonadotropic hypogonadism | + | + | − | − | − | − | − |
| Brain MRI Findings | |||||||
| Corpus callosum hypoplasia | + | + | +/− | − | − | − | + |
| Basal Ganglia dysgenesis | + | − | − | − | − | − | − |
| Dandy Walker malformation | − | − | − | − | − | − | +/− |