Xenbase

Search Diseases

Alphabetic Search:

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

???pagination.result.count???

???pagination.result.page??? ???pagination.result.prev??? 1 2 3 4 5 6 ???pagination.result.next???

Disease	Synonyms	Description	Articles
juvenile amyotrophic lateral sclerosis type 27		An amyotrophic lateral sclerosis that is character..[+] An amyotrophic lateral sclerosis that is characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities, followed by progressive lower motor neuron-mediated weakness without sensory signs or symptoms and that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22. [-]
juvenile amyotrophic lateral sclerosis with dementia	ALS-dementia complex	A juvenile amyotrophic lateral sclerosis that is s..[+] A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia. [-]
Joubert syndrome 1	JBTS1; cerebellooculorenal syndrome 1; cerebellopa.. [+] JBTS1; cerebellooculorenal syndrome 1; cerebelloparenchymal disorder IV; CORS1; CPD4 [-]	A Joubert syndrome that has_material_basis_in homo..[+] A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34. [-]
Joubert syndrome 10	JBTS10	A Joubert syndrome that has_material_basis_in X-li..[+] A Joubert syndrome that has_material_basis_in X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2. [-]
Joubert syndrome 13	JBTS13	A Joubert syndrome that has_material_basis_in homo..[+] A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24. [-]
Joubert syndrome 14	JBTS14	A Joubert syndrome characterized by severe mental ..[+] A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM237 gene on chromosome 2q33. [-]
Joubert syndrome 15	JBTS15	A Joubert syndrome characterized by ataxia, hypoto..[+] A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32. [-]
Joubert syndrome 16	JBTS16	A Joubert syndrome characterized by molar tooth si..[+] A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q. [-]
Joubert syndrome 17	JBTS17	A Joubert syndrome characterized by episodic hyper..[+] A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13. [-]	1 articles
Joubert syndrome 18	JBTS18	A Joubert syndrome that has_material_basis_in homo..[+] A Joubert syndrome that has_material_basis_in homozygous mutation in the TCTN3 gene on chromosome 10q24. [-]
Joubert syndrome 2	JBTS2; cerebellooculorenal syndrome 2; CORS2	A Joubert syndrome characterized by molar tooth si..[+] A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2. [-]
Joubert syndrome 20	JBTS20	A Joubert syndrome that has_material_basis_in comp..[+] A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23. [-]
Joubert syndrome 21	JBTS21	A Joubert syndrome that has_material_basis_in homo..[+] A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13. [-]
Joubert syndrome 22	JBTS22	A Joubert syndrome that has_material_basis_in homo..[+] A Joubert syndrome that has_material_basis_in homozygous mutation in the PDE6D gene on chromosome 2q37. [-]
Joubert syndrome 23	JBTS23	A Joubert syndrome characterized by delayed develo..[+] A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23. [-]
Joubert syndrome 24	JBTS24	A Joubert syndrome characterized by delayed psycho..[+] A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24. [-]
Joubert syndrome 25	JBTS25	A Joubert syndrome characterized by delayed psycho..[+] A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36. [-]
Joubert syndrome 26	JBTS26	A Joubert syndrome characterized by global develop..[+] A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has_material_basis_in homozygous mutation in the KIAA0556 gene on chromosome 16p12. [-]
Joubert syndrome 27	JBTS27	A Joubert syndrome that has_material_basis_in homo..[+] A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11. [-]
Joubert syndrome 28	JBTS28	A Joubert syndrome that has_material_basis_in homo..[+] A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23. [-]

???pagination.result.page??? ???pagination.result.prev??? 1 2 3 4 5 6 ???pagination.result.next???