Rare Disease Library

Cerebral diseases of vascular origin with epilepsy

Cerebral gigantism-jaw cysts syndrome

Cramer-Niederdellmann syndrome

Cerebral malformation with epilepsy

Cerebral organic aciduria

Cerebral proliferative angiopathy

CPA · Holohemispheric giant cerebral arteriovenous malformation

Cerebral sinovenous thrombosis

CSVT

Cerebral visual impairment

Cortical visual impairment

Cerebro-oculo-facial-lymphatic syndrome

Fryns-Aftimos syndrome

Cerebrocostomandibular syndrome

Cerebrofacial arteriovenous metameric syndrome

CAMS

Cerebrofacioarticular syndrome

Van Maldergem syndrome

Cerebrofaciothoracic dysplasia

Pascual-Castroviejo syndrome type 1

Cerebrooculonasal syndrome

Cerebroretinal vasculopathy

CRV · Grand-Kaine-Fulling syndrome

Cerebrotendinous xanthomatosis

CTX · Sterol 27-hydroxylase deficiency

Cernunnos-XLF deficiency

Cernunnos XLFD · Cernunnos deficiency

Cerulean cataract

Blue-dot cataract

Cervical aortic arch

Cervical dermoid cyst

Dermoid cyst of the neck

Cervical hypertrichosis-peripheral neuropathy syndrome

Cervicofacial fibrochondroma

CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome

CHAND syndrome

Baughman syndrome · CHANDS

Chandler syndrome

Channelopathy with epilepsy

Chaotic conus spinal cord lipoma

Chapare hemorrhagic fever

Char syndrome

Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

Charcot-Marie-Tooth disease type 1

Autosomal dominant demyelinating Charcot-Marie-Tooth disease · CMT1

Charcot-Marie-Tooth disease type 1A

CMT1A · Microduplication 17p12

Charcot-Marie-Tooth disease type 1B

CMT1B

Charcot-Marie-Tooth disease type 1C

CMT1C

Charcot-Marie-Tooth disease type 1D

CMT1D

Charcot-Marie-Tooth disease type 1E

Charcot-Marie-Tooth disease-hearing loss syndrome · CMT1E

Charcot-Marie-Tooth disease type 1F

CMT1F

Charcot-Marie-Tooth disease type 2B1

AR-CMT2B1 · Autosomal recessive Charcot-Marie-Tooth disease type 2B1

Charcot-Marie-Tooth disease type 2B2

AR-CMT2B2 · Autosomal recessive axonal CMT4C3

Charcot-Marie-Tooth disease type 2B5

SEOAN due to NEFL deficiency · AR-CMT2B5

Charcot-Marie-Tooth disease type 2H

CMT2H · AR-CMT2C

Charcot-Marie-Tooth disease type 2P

CMT2P

Charcot-Marie-Tooth disease type 2R

CMT2R

Charcot-Marie-Tooth disease type 2S

CMT2S

Charcot-Marie-Tooth disease type 2T

CMT2T · AR-CMT2T

Charcot-Marie-Tooth disease type 4

AR-CMT1 · Autosomal recessive demyelinating Charcot-Marie-Tooth

Charcot-Marie-Tooth disease type 4A

CMT4A

Charcot-Marie-Tooth disease type 4B1

CMT4B1

Charcot-Marie-Tooth disease type 4B2

CMT4B2

Charcot-Marie-Tooth disease type 4B3

CMT4B3 · Charcot-Marie-Tooth disease with focally folded myelin