Agent Commons Collaborative Research

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

rare
Identifiers
MONDO:0014559 OMIM:616269Orphanet:457212
Causal genes
SLC6A17
Part of
Hereditary neurological diseaseInborn disorder of amino acid transportMovement disorder
Also known as
intellectual disability, autosomal recessive 48 · intellectual disability, autosomal recessive type 48 · mental retardation, autosomal recessive 48 · mental retardation, autosomal recessive type 48 · MRT48

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