Rare Disease Library

Bickerstaff brainstem encephalitis

Bilirubin encephalopathy

Kernicterus

Bleeding diathesis due to integrin alpha2-beta1 deficiency

Blepharo-cheilo-odontic syndrome

BCD syndrome · Blepharocheilodontic syndrome

Blepharofacioskeletal syndrome

Richieri Costa-Guion Almeida-Rodini syndrome

Blepharonasofacial malformation syndrome

Pashayan syndrome · Pashayan-Pruzansky syndrome

Blepharophimosis-intellectual disability syndrome

Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency

Blepharophimosis-intellectual disability syndrome, MKB type

BMRS, MKB type · BMRS, Maat-Kievit-Brunner type

Blepharophimosis-intellectual disability syndrome, Ohdo type

BMRS, Ohdo type · Blepharophimosis syndrome, Ohdo type

Blepharophimosis-intellectual disability syndrome, SBBYS type

SBBYS variant of Ohdo syndrome · Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome

Blepharophimosis-intellectual disability syndrome, Verloes type

BMRS type V · BMRS, Verloes type

Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome

Blepharophimosis-ptosis-epicanthus inversus syndrome

BPES

Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome

Frydman-Cohen-Karmon syndrome

Blepharoptosis-myopia-ectopia lentis syndrome

Blepharospasm-oromandibular dystonia syndrome

Meige dystonia · Meige syndrome

Borna virus encephalitis

Bornavirus encephalitis

Brachymorphism-onychodysplasia-dysphalangism syndrome

BOD syndrome · Senior syndrome

Brachytelephalangic chondrodysplasia punctata

Brachytelephalangy-dysmorphism-Kallmann syndrome

Capillary-lymphatic-venous malformation with segmental distribution

CLVM with segmental distribution · Klippel-Trénaunay syndrome

Carbamoyl-phosphate synthetase 1 deficiency

CPS1 deficiency · CPS1D

Carcinoma of esophagus

Esophageal carcinoma

Carcinoma of esophagus, salivary gland type

Esophageal carcinoma, salivary gland type

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

Cephalocele

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

Cerebro-oculo-facial-lymphatic syndrome

Fryns-Aftimos syndrome

Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

Childhood-onset hypophosphatasia

Childhood-onset phosphoethanolaminuria · Childhood-onset Rathbun disease

Chronic bilirubin encephalopathy

CBE · Kernicterus spectrum disorder

Chronic encephalitis

Class I glucose-6-phosphate dehydrogenase deficiency

Class I G6PD deficiency · Severe hemolytic anemia due to G6PD deficiency

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

Common cystic lymphatic malformation

Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

CAH due to 17-alpha-hydroxylase deficiency · Combined 17-hydroxylase/17,20-lyase deficiency

Congenital alpha2-antiplasmin deficiency

Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome

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

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