|OBO ID: DOID:0050814|
|Term Name:||temtamy preaxial brachydactyly syndrome||Search Ontology:|
|Definition:||A syndrome 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. (3)|
|Ontology:||Human Disease (DOID:0050814)|
|is a type of:||
OTHER temtamy preaxial brachydactyly syndrome PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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