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:0002254
syndromic disease
is_a
MONDO:0005172
skeletal system disorder
is_a
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0015286
congenital disorder of glycosylation
is_a
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0019054
congenital limb malformation
is_a
TPBS
related
intellectual disability syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies
related
mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies
related
preaxial brachydactyly syndrome, TEMTAMY type
exact
temtamy preaxial brachydactyly syndrome
exact