INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 48; MRT48

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Summary

Literature (0)

MIM:616269 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 48; MRT48

Xenbase Genes: slc6a17

Human Disease Resource: MIM

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014559 - progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome

MONDO:0014559 - progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome

Disease Ontology (DO):

DOID:0081212 - autosomal recessive intellectual developmental disorder 48

DOID:0081212 - autosomal recessive intellectual developmental disorder 48