Rare Disease Library

Cephalocele

Congenital erythropoietic porphyria

CEP · Günther disease

Fibromuscular dysplasia of the cervical and intracranial arteries

Cerebrovascular fibromuscular dysplasia · Cerebrovascular FMD

Multiple symmetric lipomatosis

Cephalothoracic lipodystrophy · Familial benign cervical lipomatosis

Achalasia-microcephaly syndrome

Acquired porencephaly

Acquired schizencephaly

Acrocephalopolydactyly

Acrocephalopolydactylous dysplasia · Elejalde acrocephalopolydactyly

Acute bilirubin encephalopathy

ABE · Acute kernicterus

Acute disseminated encephalomyelitis

ADEM · Acute disseminated encephalitis

Acute disseminated encephalomyelitis with anti-MOG antibodies

ADEM with anti-MOG antibodies · Acute disseminated encephalomyelitis with anti-myelin oligodendrocyte glycoprotein antibodies

Acute disseminated encephalomyelitis without anti-MOG antibodies

Acute disseminated encephalomyelitis without anti-myelin oligodendrocyte glycoprotein antibodies

Acute encephalopathy with biphasic seizures and late reduced diffusion

AESD · AIEF

Acute encephalopathy with inflammation-mediated status epilepticus

Acute necrotizing encephalopathy of childhood

ANEC · Isolated ANE

Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate

Acute reversible leukoencephalopathy due to SLC13A3 deficiency · Acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency

Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency

Adult-onset common variable immunodeficiency phenotype due to B-cell activating factor receptor deficiency · Adult-onset CVID phenotype due to BAFF-receptor deficiency

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

ALSP · Autosomal dominant leukoencephalopathy with neuroaxonal spheroids

Adult-onset progressive leukoencephalopathy-early-onset deafness

Adult-onset progressive leukoencephalopathy-early-onset hearing loss

Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome

Agnathia-holoprosencephaly-situs inversus syndrome

Alobar holoprosencephaly

Amish lethal microcephaly

Anonychia-microcephaly syndrome

Teebi-Kaurah syndrome

Aphalangy-syndactyly-microcephaly syndrome

Aprosencephaly

Aprosencephaly cerebellar dysgenesis

Aprosencephaly/atelencephaly spectrum

AP/AT spectum

ARX-related encephalopathy-brain malformation spectrum

ARX-related epileptic encephalopathy

Atelencephaly

Atelencephalic microcephaly

Atypical glycine encephalopathy

Atypical NKA · Atypical non-ketotic hyperglycinemia

Aurocephalosyndactyly

Auralcephalosyndactyly · Kurczynski-Casperson syndrome

Autoimmune encephalitis

AE · AIE

Autoimmune encephalopathy with parasomnia and obstructive sleep apnea

Anti-IgLON5 syndrome · Anti-IgLON5 disease

Autoimmune limbic encephalitis

ALE

Autosomal dominant chorioretinopathy-microcephaly syndrome

Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation

H1-4-related neurodevelopmental disorder · Rahman syndrome

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency

Autosomal dominant MSMD due to a partial deficiency

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

Autosomal dominant MSMD due to partial IFNgammaR1 deficiency · Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency

Autosomal dominant MSMD due to partial IFNgammaR2 deficiency · Autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency

Autosomal dominant primary microcephaly

Autosomal recessive chorioretinopathy-microcephaly syndrome

Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome

Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency

Autosomal recessive MSMD due to a complete deficiency

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency

Autosomal recessive MSMD due to a partial deficiency

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

Autosomal recessive MSMD due to partial IFNgammaR1 deficiency · Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency

Autosomal recessive MSMD due to partial IFNgammaR2 deficiency · Autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency