/progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome

progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome

Rare Disease

MONDO:0014559

Also Known As

intellectual disability, autosomal recessive type 48mental retardation, autosomal recessive type 48MRT48intellectual disability, autosomal recessive 48mental retardation, autosomal recessive 48

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Associated Genes

SLC6A17 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

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progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome

Also Known As

Patient-Friendly Information

Associated Genes

External Resources

OMIM

Orphanet

GARD

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