has material basis in germline mutation in CHSY1 syndromic disease skeletal system disorder autosomal recessive disease temtamy preaxial brachydactyly syndrome https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/6751 https://rarediseases.info.nih.gov/diseases/9679/temtamy-preaxial-brachydactyly-syndrome https://www.malacards.org/card/temtamy_preaxial_brachydactyly_syndrome TPBS MEDGEN:381425 DOID:0050814 intellectual disability syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies GARD:0009679 preaxial brachydactyly syndrome, TEMTAMY type temtamy preaxial brachydactyly syndrome An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene. MONDO:0011533 MESH:C536958 Orphanet:363417 OMIM:605282 UMLS:C1854466 mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies congenital disorder of glycosylation developmental anomaly of metabolic origin congenital limb malformation