has material basis in germline mutation in SLC6A8 cerebral creatine deficiency syndrome creatine transporter deficiency https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/cerebral_creatine_deficiency_syndrome_1 SLC6A8 deficiency mental retardation, X-linked, with creatine transport deficiency OMIM:300352 SCTID:698290008 UMLS:C1845862 CCDS1 intellectual disability, X-linked, with creatine Transport deficiency X-linked creatine deficiency X-linked creatine deficiency syndrome ICD9:758.81 DOID:0050800 MEDGEN:337451 intellectual disability, X-linked with seizures, short stature and midface hypoplasia mental retardation, X-linked, with creatine Transport deficiency NANDO:1201035 GARD:0001608 mental retardation, X-linked, with seizures, short stature, and midface hypoplasia mental retardation, X-linked with seizures, short stature and midface hypoplasia NCIT:C125665 creatine transporter deficiency X-linked creatine transporter deficiency NANDO:2201301 creatine deficiency, X-linked NORD:1966 Orphanet:52503 intellectual disability, X-linked, with seizures, short stature, and midface hypoplasia cerebral creatine deficiency syndrome type 1 cerebral creatine deficiency syndrome 1, X-linked recessive cerebral creatine deficiency syndrome 1 intellectual disability, X-linked, with creatine transport deficiency creatine deficiency syndrome, X-linked X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures. MESH:C535598 creatine transporter defect MONDO:0010305 multiple congenital anomalies/dysmorphic syndrome-intellectual disability developmental anomaly of metabolic origin