Rare Disease Library

Autosomal recessive primary microcephaly

MCPH · Microcephalia vera

Autosomal recessive spastic ataxia with leukoencephalopathy

ARSAL · Autosomal recessive spastic ataxia type 3

Basal encephalocele

Benign cephalic histiocytosis

Bickerstaff brainstem encephalitis

Bilirubin encephalopathy

Kernicterus

Bleeding diathesis due to a collagen receptor defect

Borna virus encephalitis

Bornavirus encephalitis

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome

CIMDAG syndrome

Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy

CADASIL · Hereditary multi-infarct dementia

Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy

Maeda syndrome · CARASIL

Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

Chronic bilirubin encephalopathy

CBE · Kernicterus spectrum disorder

Chronic encephalitis

Classic lissencephaly

Lissencephaly type 1

Closed iniencephaly

CNTNAP2-related developmental and epileptic encephalopathy

CDFE syndrome · CDFES

Cobblestone lissencephaly

Lissencephaly type 2

Cobblestone lissencephaly without muscular or ocular involvement

Cobblestone lissencephaly without muscular or eye involvement · Lissencephaly type 2 without muscular or eye involvement

COL4A1/2-related familial vascular leukoencephalopathy

COL4A-related brain small vessel disease with hemorrhage · COL4A-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome

Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome

COMMAD syndrome

Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome

NEDMABA disorder · Neurodevelopmental disorder-microcephaly-arthrogryposis-structural brain anomalies

Congenital axonal neuropathy with encephalopathy

Congenital communicating hydrocephalus

Congenital non-obstructive hydrocephalus

Congenital hydrocephalus

Congenital ichthyosis-microcephalus-tetraplegia syndrome

Congenital ichthyosis-microcephalus-quadriplegia syndrome

Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome

Asparagine synthetase deficiency

Congenital non-communicating hydrocephalus

Congenital obstructive hydrocephalus

Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

Corneal dystrophy-perceptive deafness syndrome

CDPD · Corneal dystrophy with progressive deafness

Corpus callosum agenesis-macrocephaly-hypertelorism syndrome

7q36.3 microduplication syndrome · Dup(7)(q36.3)

Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

Braddock-Jones-Superneau syndrome

Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

Berant syndrome · Capra-DeMarco syndrome

Craniotelencephalic dysplasia

Cree leukoencephalopathy

Cystic leukoencephalopathy without megalencephaly

CLWM

Deafness-encephaloneuropathy-obesity-valvulopathy syndrome

Hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome

Delayed encephalopathy due to carbon monoxide poisoning

Delayed encephalopathy due to CO poisoning

Developmental and epileptic encephalopathy with spike-wave activation in sleep

CSWS · CSWSS syndrome

Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome

Diencephalic syndrome

Diencephalic cachexia · Diencephalic syndrome of childhood

Diencephalic-mesencephalic junction dysplasia

Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome

Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome

DAIPT · Distal arthrogryposis with impaired proprioception and touch

DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect

DNMT3A-related microcephalic dwarfism

HESJAS · Heyn-Sproul-Jackson syndrome

Early infantile developmental and epileptic encephalopathy

Early infantile epileptic encephalopathy with suppression-bursts · Ohtahara syndrome