Search results for "[genes] TUBA1A"

16 hits were found for '[genes] TUBA1A'

# Family MCID Name MIFTS Score
1
c LSS009 Lissencephaly 3 24 22.762
2
P LSS002 Lissencephaly 49 19.712
3
HYD001 Hydranencephaly 35 16.095
4
c EPL099 Epileptic Encephalopathy, Early Infantile, 15 48 13.939
5
P HTR015 Heterotopia, Periventricular 46 13.939
6
MLL018 Miller-Dieker Lissencephaly Syndrome 45 13.939
7
PCH002 Pachygyria 39 13.939
8
c CNG031 Congenital Nervous System Abnormality 37 13.939
9
c DST027 Distal Hereditary Motor Neuropathy, Type Ii 30 13.939
10
P MCR099 Microlissencephaly 28 13.939
11
TBL023 Tubulinopathies 20 13.939
12
PHY002 Physical Disorder 43 11.381
13
NRN016 Neuronal Migration Disorders 42 11.381
14
P LSS024 Lissencephaly with Cerebellar Hypoplasia 34 11.381
15
P RTN008 Retinitis Pigmentosa 80 8.048
16
TBL027 Tubulinopathy-Associated Dysgyria 18 8.048