Rare Disease Library

Short chain acyl-CoA dehydrogenase deficiency

ACADS deficiency · SCAD deficiency

Simpson-Golabi-Behmel syndrome

DGSX · Golabi-Rosen syndrome

Simpson-Golabi-Behmel syndrome type 2

Lethal variant of Simpson-Golabi-Behmel syndrome · SGBS2

SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome

SCD-EDS · SLC39A13-related spEDS

Spondylodysplastic Ehlers-Danlos syndrome

spEDS · Spondylodysplastic EDS

Steroid dehydrogenase deficiency-dental anomalies syndrome

Lyngstadaas syndrome

Succinic semialdehyde dehydrogenase deficiency

4-hydroxybutyric aciduria · Gamma-hydroxybutyric aciduria

Thiel-Behnke corneal dystrophy

Anterior limiting membrane dystrophy type 2 · Corneal dystrophy of Bowman layer type 2

Transient neonatal multiple acyl-CoA dehydrogenase deficiency

Transient neonatal MAD deficiency · Transient neonatal MADD

Trehalase deficiency

Isolated trehalose intolerance

Vascular Ehlers-Danlos-polymicrogyria syndrome

Vascular EDS with polymicrogyria

Vascular-like classical Ehlers-Danlos syndrome

Classical EDS due to COL1A1 p.(Arg312Cys) · Classical Ehlers-Danlos syndrome due to COL1A1 p.(Arg312Cys)

Very long chain acyl-CoA dehydrogenase deficiency

VLCAD deficiency · VLCADD

WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome

DESSH · Desanto-Shinawi syndrome

X-linked epilepsy-learning disabilities-behavior disorders syndrome

X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome

ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion

10p15.3 microdeletion syndrome · Del(10)(p15.3)