Rare Disease Library

Creatine deficiency syndrome

CDS · Cerebral creatine deficiency syndrome

Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency

CEDS · Caspase 8 deficiency syndrome

Brittle hair syndrome, Sabinas type

Brittle hair-mental deficiency syndrome · Trichothiodystrophy type B

Classic glucose transporter type 1 deficiency syndrome

De Vivo disease · Classic GLUT1 deficiency syndrome

Combined immunodeficiency due to DOCK8 deficiency

CID due to DOCK8 deficiency · Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency

Cystathioninuria

Cystathionase deficiency · Gamma-cystathionase deficiency

Digitorenocerebral syndrome

DRC syndrome · Eronen-Somer-Gustafsson syndrome

Familial hyperinflammatory lymphoproliferative immunodeficiency

NCKAP1L-associated hyperinflammatory disorder · HEM1 deficiency syndrome

Hyper-IgM syndrome type 3

HIGM3 · Hyper-IgM syndrome due to CD40 deficiency

Hyper-IgM syndrome type 5

HIGM5 · Hyper-IgM syndrome due to UNG deficiency

Infantile dystonia-parkinsonism

Dopamine transporter deficiency syndrome · IPD

Narcolepsy type 1

Gélineau disease · Narcolepsy-cataplexy

Neurodegenerative syndrome due to cerebral folate transport deficiency

Folate receptor alpha deficiency · Cerebral folate transport deficiency

Oculo-palato-cerebral syndrome

Oculo-palato-cerebral dwarfism

Prune belly syndrome

Abdominal muscle deficiency syndrome · Eagle-Barret syndrome

Pyruvate carboxylase deficiency

Ataxia with lactic acidosis type 2 · Ataxia with lactic acidosis type II

Radial deficiency-tibial hypoplasia syndrome

Rh deficiency syndrome

Rh-null syndrome

Severe intellectual disability and progressive spastic paraplegia

AP4 deficiency syndrome

Syndrome with combined immunodeficiency

X-linked central congenital hypothyroidism with late-onset testicular enlargement

IGSF1 deficiency syndrome · X-linked central congenital hypothyroidism with late-onset macroorchidism

X-linked creatine transporter deficiency

Creatine transporter deficiency · SLC6A8 deficiency

X-linked hyper-IgM syndrome

HIGM1 · Hyper-IgM syndrome due to CD40 ligand deficiency

X-linked lymphoproliferative disease due to XIAP deficiency

X-linked lymphoproliferative syndrome type 2 · XLP2