has material basis in germline mutation in SLC6A17 syndromic intellectual disability movement disorder progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome https://github.com/monarch-initiative/mondo/issues/4985 https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/intellectual_developmental_disorder_autosomal_recessive_48 https://www.malacards.org/card/progressive_essential_tremor_speech_impairment_facial_dysmorphism_intellectual_disability_abnormal_behavior_syndrome DOID:0081212 UMLS:C4225395 mental retardation, autosomal recessive 48 intellectual disability, autosomal recessive type 48 OMIM:616269 MRT48 MEDGEN:895952 mental retardation, autosomal recessive type 48 intellectual disability, autosomal recessive 48 MONDO:0014559 Orphanet:457212 GARD:0017798 inborn disorder of amino acid transport hereditary neurological disease