|
1751
|
|
|
Ankyrin repeat domain 9 |
- |
|
|
1752
|
|
|
Adenylate kinase 7 |
AK 7, CFAP75, FAP75, SPGF27 |
|
|
1753
|
|
|
Trafficking protein particle complex subunit 6B |
NEDMEBA, TPC6 |
Brainstem atrophy, Cerebellar atrophy, Cerebral cortical atrophy, Developmental delay, Dwarfism, Hypoplasia of corpus callosum, Mental retardation, Distal hereditary motor neuronopathy, Nystagmus, Stereotyped behavior, Strabismus |
|
1754
|
|
|
Phospholipase D family member 4 |
C14orf175 |
|
|
1755
|
|
|
Adenylosuccinate synthase 1 |
ADSSL1, MPD5 |
Adenylosuccinate synthetase-like distal myopathy, Breast carcinoma, Cardiomyopathy, Distal amyotrophy, Distal lower limb amyotrophy, Distal myopathy, Elbow flexion contracture, Facial paralysis, Keratoconjunctivitis sicca, Limb amyotrophy, Myopathy, Ptosis |
|
1756
|
|
|
Kelch domain containing 1 |
MST025 |
|
|
1757
|
|
|
FERM domain containing 6 |
C14orf31, EX1, Willin, c14_5320 |
|
|
1758
|
|
|
Jun dimerization protein 2 |
JUNDM2 |
|
|
1759
|
|
|
Iron-sulfur cluster assembly 2 |
HBLD1, ISA2, MMDS4, c14_5557 |
|
|
1760
|
|
|
Perilipin 2 |
ADFP, ADRP |
|