Mondo Description Any acrodysostosis in which the cause of the disease is a mutation in the PDE4D gene.
Uniprot Description A pleiotropic disorder characterized by skeletal, endocrine, and neurological abnormalities. Skeletal features include brachycephaly, midface hypoplasia with a small upturned nose, brachydactyly, and lumbar spinal stenosis. Endocrine abnormalities include hypothyroidism and hypogonadism in males and irregular menses in females. Developmental disability is a common finding but is variable in severity and can be associated with significant behavioral problems.
Mondo Term and Equivalent IDs
MONDO:0013822: acrodysostosis 2 with or without hormone resistance