Male, age 3, with global developmental delay, abnormal muscle tone and movement, and light pigmentation of the hair and skin (hypopigmentation)
Jul 22, 2019
In infancy, the participant never cried and had limited motion. He began to show signs of global developmental delay shortly after birth. Currently he can sit up unassisted and can transition between sitting up and laying down. He can hold and drink from a sippy cup, babble, and use gestures and simple signs. He is also able to bear weight and take steps with maximal assistance.
The participant has low muscle tone in his trunk (axial hypotonia) and slightly increased muscle tone in his limbs (spasticity). He also has weakness of neck muscles used to lift the head (isolated neck extensor weakness). He has frequent abnormal movements of his arms and head (hyperkinetic movements, dyskinetic movements, and stereotypies).
The participant has some different features including inverted nipples, abnormal distribution of fat (prominent suprapubic fat pad), and light pigmentation of hair and skin (hypopigmentation of hair, generalized hypopigmentation).
Clinicians and researchers are investigating the following de novo genetic change to see if it is causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
