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GTR Home > Conditions/Phenotypes > Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome

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

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 48
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A rare genetic syndromic intellectual disability characterized by global developmental delay, moderate to severe intellectual disability, motor and language impairment, behavioral abnormalities (with mood instability, aggression and self-mutilation) and progressive hand tremor. Facial dysmorphism includes narrow palpebral fissures, large ears, long philtrum and prominent chin. [from SNOMEDCT_US]

Available tests

6 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (6 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MRT48, NTT4, SLC6A17
    Summary: solute carrier family 6 member 17

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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