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Metadata
ID DOID:0050814
Name temtamy preaxial brachydactyly syndrome
Definition 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.
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363417, http://www.sciencedirect.com/science/article/pii/S1769721213002449, https://www.ncbi.nlm.nih.gov/pubmed/21129728
Xrefs

GARD:9679

OMIM:605282

Synonyms

PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE [EXACT]

Parent Relationships

is_a autosomal recessive disease

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