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Diseases
Genes (389)
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SALL4
Duane-Radial Ray Syndrome
GJA1
Oculodentodigital Dysplasia
COL6A1
Bethlem Myopathy
FMR1
Disinhibition
Renpenning's Syndrome
Fragile X-Associated Tremor/ataxia Syndrome
TTPA
Familial Isolated Vitamin E Deficiency
ACADVL
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
MMUT
Methylmalonyl-Coa Mutase Deficiency
SLC17A5
Salla Disease
COL6A3
Bethlem Myopathy
COL6A2
Bethlem Myopathy
PQBP1
Renpenning's Syndrome
SLC20A2
Primary Familial Brain Calcification
RECQL4
Baller–gerold Syndrome
FAM20A
Enamel-Renal Syndrome
PDGFRB
Primary Familial Brain Calcification
AGGF1
Klippel–trénaunay Syndrome
IFIH1
Singleton Merten Syndrome
COL12A1
Bethlem Myopathy
ASS1
Citrullinemia Type I
PDGFB
Primary Familial Brain Calcification