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Diseases
Genes (967)
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CHM
Choroideremia
RYR1
Malignant Hyperthermia
Hypertelorism
PMM2
Pmm2 Deficiency
Hypertelorism
VPS33B
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
ASL
Argininosuccinic Aciduria
VIPAS39
Arthrogryposis–renal Dysfunction–cholestasis Syndrome
MYO5A
Griscelli Syndrome
PTEN
Proteus-Like Syndrome
Hypertelorism
PTPN11
Metachondromatosis
Hypertelorism
RAB3GAP1
Warburg Micro Syndrome 3
NF1
Watson Syndrome
Hypertelorism
GNAS
Progressive Osseous Heteroplasia
FOXP2
Foxp2-Related Speech And Language Disorder
NOTCH3
Cadasil
Hypertelorism
FOXG1
Foxg1 Syndrome
ADGRG1
Bilateral Frontoparietal Polymicrogyria
RAC2
Neutrophil Immunodeficiency Syndrome
RAB18
Warburg Micro Syndrome 3
RAB3GAP2
Warburg Micro Syndrome 3
COX4I2
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis