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Diseases
Genes (610)
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ABHD5
Cerebral Creatine Deficiency
PAX3
Waardenburg Syndrome Type I
ATRX
Alpha-Thalassemia Mental Retardation Syndrome
ABCA4
Stargardt Disease 4
PROM1
Stargardt Disease 4
Cone-Rod Dystrophy 12
COL1A1
Osteogenesis Imperfecta, Type Xvi
GAMT
Guanidinoacetate Methyltransferase Deficiency
COL1A2
Osteogenesis Imperfecta, Type Xvi
FMR1
Renpenning's Syndrome
Fragile X-Associated Tremor/ataxia Syndrome
PQBP1
Renpenning's Syndrome
NGLY1
Ngly1 Deficiency
SLC2A1
Glucose Transporter Type 1 Deficiency Syndrome
PMM2
Pmm2 Deficiency
FARS2
Neurogenic Bladder Dysfunction
Spastic Paraplegia 77, Autosomal Recessive
SLC20A2
Primary Familial Brain Calcification
GALE
Galactose Epimerase Deficiency
MAGEL2
Schaaf-Yang Syndrome
PDGFRB
Cerebral Creatine Deficiency
Primary Familial Brain Calcification
MAFB
Duane Syndrome
B3GLCT
Peters Plus Syndrome