Disease Index

human disease

medical condition

human disease

rare chromosomal disorder

human disease

human disease

human disease

human disease

human disease

human disease

gene have been suggested as a potential cause of the condition

muscle tissue disease characterized by muscles unusually sensitive to movement or pressure; the proximal muscles are most affected, especially the thighs

human disease

Ritscher-Schinzel syndrome that has material basis in homozygous mutation in the KIAA0196 gene on chromosome 8q24

Ritscher-Schinzel syndrome that has material basis in mutation in the CCDC22 gene on chromosome Xp11

developmental malformation syndrome characterized by craniofacial abnormalities, congenital heart defects, and cerebellar brain malformations.

Human disease

Human disease

human disease

syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities

human disease

isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus

human disease

medical condition

human disease

human disease

human disease