Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 4 of 4 for Upper limb muscle hypoplasia
  1. PITX1 gene 
    ... the elbows and wrists, and other bone and muscle abnormalities. These genetic changes delete, insert, or rearrange genetic ... that normally turn off the PITX1 gene during upper limb development. As a ... limb structure, bones, muscles, and tendons in the arms and hands develop ...
    https://medlineplus.gov/genetics/gene/pitx1 - Genetics
  2. GJC2 gene 
    ... limbs.Spastic paraplegia type 44 is characterized by muscle stiffness (spasticity), paralysis of the upper limbs (paraplegia), impaired speech (dysarthria), and mild intellectual disability. ...
    https://medlineplus.gov/genetics/gene/gjc2 - Genetics
  3. ANO5 gene 
    ... is a group of related disorders characterized by muscle weakness and wasting (atrophy), particularly in the shoulders, hips, thighs, and upper arms.The ANO5 gene mutations identified in people with limb-girdle muscular dystrophy type 2L change single amino ...
    https://medlineplus.gov/genetics/gene/ano5 - Genetics
  4. TUBB3 gene 
    ... with other brain malformations 1 (CDCBM1). The brain abnormalities associated with this condition lead to intellectual disability, weak muscle tone (hypotonia), and progressive muscle stiffness (spasticity) in ...
    https://medlineplus.gov/genetics/gene/tubb3 - Genetics