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GHR
- Laron Syndrome
FLNC
- Myopathy, Myofibrillar, 5
ABHD5
- Neutral Lipid Storage Disease
DES
- Myofibrillar Myopathy
FBN1
- Marfan Syndrome
KLHL40
- Nemaline Myopathy 8
LMOD3
- Nemaline Myopathy 10
SERPINA1
- Alpha-1-Antitrypsin Deficiency
- Neutral Lipid Storage Disease
CSF1R
- Hereditary Diffuse Leukoencephalopathy With Spheroids
PAX6
- Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
WT1
- Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
TNFAIP3
- Haploinsufficiency Of A20
BAG3
- Muscular Dystrophy, Selcen Type
MYOT
- Myopathy, Spheroid Body
PYROXD1
- Myopathy, Myofibrillar, 8
COG4
- Saul-Wilson Syndrome
POLA1
- X-Linked Reticulate Pigmentary Disorder
CYP7B1
- Bile Acid Synthesis Defect, Congenital, 3
MOCS1
- Molybdenum Cofactor Deficiency
LDB3
- Myopathy, Myofibrillar, 4
- Myofibrillar Myopathy