GeneReviews OMIM 109150 HSP53, 54 Spasmodic dysphonia is most AD TUBB4A common dystonic presentation. Alternative, phenotype: Hypomyelinating leukodystrophy (see footnote) GeneReviews n/a OMIM: 128101 Hereditary spastic paraplegia: AR SPG76 pure or complex; cerebellar 56 dysarthria, cerebellar ataxia, foot deformity, ocular movement abnormalities, peripheral neuropathy, amyotrophy. GeneReviews OMIM: Hereditary spastic paraplegia: AD complex; learning disability, 58 global developmental delay, autism spectrum disorder, sensory-motor peripheral neuropathy, seizures, ataxia. Alternative phenotype: Epileptic encephalopathy, infantile, 32 OMIM: 616366 GeneReviews
GeneReviews OMIM 109150 HSP53, 54 Spasmodic dysphonia is most common dystonic presentation. Alternative, phenotype: Hypomyelinating leukodystrophy (see footnote) GeneReviews n/a OMIM: 128101 AD TUBB4A 56 Hereditary spastic paraplegia: pure or complex; cerebellar dysarthria, cerebellar ataxia, foot deformity, ocular movement abnormalities, peripheral neuropathy, amyotrophy. GeneReviews OMIM: AR SPG76 58 Hereditary spastic paraplegia: complex; learning disability, global developmental delay, autism spectrum disorder, sensory-motor peripheral neuropathy, seizures, ataxia. Alternative phenotype: Epileptic encephalopathy, infantile, 32 OMIM: 616366 GeneReviews AD