Search results for tuba8
16 hits were found for tuba8
# | Family | MCID | Name | MIFTS | Score | |
---|---|---|---|---|---|---|
1 | c | CRT082 | Cortical Dysplasia, Complex, with Other Brain Malformations 8 | 27 | 5.350 | |
2 | PLY024 | Polymicrogyria | 49 | 4.418 | ||
3 | TBL023 | Tubulinopathies | 31 | 2.265 | ||
4 | P | BND018 | Band Heterotopia | 53 | 2.187 | |
5 | P | PRV002 | Periventricular Nodular Heterotopia | 52 | 2.187 | |
6 | MLL018 | Miller-Dieker Lissencephaly Syndrome | 51 | 2.187 | ||
7 | TKL001 | Tukel Syndrome | 50 | 2.187 | ||
8 | GLD006 | Goldberg-Shprintzen Syndrome | 47 | 2.187 | ||
9 | CHR659 | Chromosome 22q11.2 Duplication Syndrome | 41 | 2.187 | ||
10 | CMB040 | Combined D-2- and L-2-Hydroxyglutaric Aciduria | 40 | 2.187 | ||
11 | c | CNG031 | Congenital Nervous System Abnormality | 24 | 2.187 | |
12 | CLP002 | Colpocephaly | 20 | 2.187 | ||
13 | c | LSS005 | Lissencephaly 1 | 56 | 0.094 | |
14 | OPT070 | Optic Nerve Hypoplasia, Bilateral | 56 | 0.094 | ||
15 | P | LSS002 | Lissencephaly | 51 | 0.094 | |
16 | PLY183 | Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome | 41 | 0.094 |