User Posts: Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
0
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Caused by WWOX Mutation
0

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by WWOX mutation is a rare, inherited brain and nerve disorder caused by ...

0
Autosomal Recessive Spinocerebellar Ataxia 12 (SCAR12),
0

Autosomal recessive spinocerebellar ataxia 12 (SCAR12) is a very rare, inherited brain disorder. Children with SCAR12 usually start having generalized seizures ...

0
SYT14-Related Autosomal Recessive Syndromic Cerebellar Ataxia (SCAR11)
0

SYT14-related autosomal recessive syndromic cerebellar ataxia is a rare inherited brain disorder. It mainly affects the cerebellum, the part of the brain that ...

0
Autosomal Recessive Syndromic Cerebellar Ataxia Caused by Mutation in SYT14 (SCAR11)
0

Autosomal recessive syndromic cerebellar ataxia caused by mutation in SYT14 (SCAR11) is a rare, inherited brain disorder that mainly affects the cerebellum, ...

0
Psychomotor Delay Syndrome
0

Psychomotor Delay Syndrome means a child is slower than most children their age to do movement and thinking skills such as rolling, sitting, walking, speaking, ...

0
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
0

Autosomal recessive cerebellar ataxia–psychomotor delay syndrome is a rare, inherited brain disorder. “Autosomal recessive” means a child gets one faulty gene ...

0
Autosomal Recessive Spinocerebellar Ataxia 11 (SCAR11)
0

Autosomal Recessive Spinocerebellar Ataxia 11 (SCAR11) is a very rare genetic brain disorder that mainly damages the cerebellum, the part of the brain that ...

0
Spinocerebellar Ataxia (SCA)
0

Spinocerebellar ataxia (SCA) is a group of rare, inherited brain disorders. In SCA, parts of the brain that control balance and coordination—especially the ...

0
Autosomal Recessive Cerebellar Ataxia Caused by ANO10 Mutation
0

Autosomal Recessive Cerebellar Ataxia Caused by ANO10 Mutation is a rare, inherited brain disorder in which both copies of a person’s ANO10 gene are changed ...

0
ANO10 Autosomal Recessive Cerebellar Ataxia (SCAR10)
0

ANO10 autosomal recessive cerebellar ataxia is a rare, inherited brain disorder. It mainly affects the cerebellum, the part of the brain that controls balance, ...

0
Autosomal Recessive Spinocerebellar Ataxia 10 (SCAR10)
0

Autosomal recessive spinocerebellar ataxia 10 (SCAR10) is a rare, inherited brain disorder that mainly affects the cerebellum—the part that coordinates ...

0
Hereditary Spastic Paraplegia (HSP) Caused by ATP13A2 Mutations (SPG78)
0

Hereditary spastic paraplegia (HSP) due to ATP13A2 is a rare, inherited brain and spinal cord condition. It mainly causes stiffness and weakness in both legs. ...

0
ATP13A2 Hereditary Spastic Paraplegia (SPG78)
0

ATP13A2 hereditary spastic paraplegia—also called spastic paraplegia type 78 (SPG78)—is a rare, inherited nerve-degeneration disease that mainly stiffens and ...

0
Autosomal Recessive Spastic Paraplegia Type 78 (SPG78)
0

Autosomal recessive spastic paraplegia type 78 is a rare genetic nerve disease. It mainly affects the long motor pathways that run from the brain to the legs. ...

0
Hereditary Spastic Paraplegia Type 76 (HSP-SPG76)
0

Hereditary Spastic Paraplegia type 76 (HSP-SPG76) is a rare, inherited nerve disease. It mainly stiffens (spastic) and weakens the legs over time. It happens ...

0
CAPN1 Autosomal Recessive Complex Spastic Paraplegia (SPG76)
0

CAPN1 autosomal recessive complex spastic paraplegia is a rare inherited nerve disorder. It mainly damages the long movement pathways that run from the brain ...

0
Autosomal Recessive Complex Spastic Paraplegia Caused by Mutations in CAPN1
0

Autosomal recessive complex spastic paraplegia caused by mutations in CAPN1 is a rare inherited nerve disorder. It mainly makes the legs stiff and tight ...

0
Autosomal Recessive Spastic Paraplegia Type 76 (SPG76)
0

Autosomal recessive spastic paraplegia type 76—often shortened to SPG76—is a rare inherited nerve disorder. It mainly affects the long motor pathways that run ...

0
Autosomal Recessive Spastic Paraplegia type 71 (SPG71)
0

Autosomal Recessive Spastic Paraplegia type 71 (SPG71) is a very rare, inherited nerve condition. It mainly stiffens and weakens the leg muscles (spastic ...

0
Autosomal Recessive Spastic Paraplegia Type 70 (SPG70)
0

Autosomal recessive spastic paraplegia type 70 (SPG70) is a very rare, infant-onset form of hereditary spastic paraplegia caused by pathogenic variants in ...

Browsing All Comments By: Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
RxHarun
Logo