Condition: Acrocapitofemoral Dysplasia
rs121917857
in
IHH
gene and
Acrocapitofemoral Dysplasia
PMID 12632327
2003 Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.
rs121917856
in
MIR3131;IHH
gene and
Acrocapitofemoral Dysplasia
PMID 12632327
2003 Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.