X-linked spinal muscular atrophy-2 (SMAX2) is characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures, known as arthrogryposis, associated with loss of anterior horn cells and infantile death. [From OMIM]
Diseases of the nervous system
Systemic atrophies primarily affecting the central nervous system
X-linked recessive
Xp11.3
X-linked spinal muscular atrophy-2 (SMAX2) is characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures, known as arthrogryposis, associated with loss of anterior horn cells and infantile death. [From OMIM]
| Subject ID | Country | Sex | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference |
|---|---|---|---|---|---|---|---|
| 301830.1 | Saudi Arabia | Male | Brain atrophy; Leukodystrophy; Hypertoni... Brain atrophy; Leukodystrophy; Hypertonia; Spasticity; Muscle weakness; Visual loss; Hearing impairment; Autistic behavior; Adrenal insufficiency  | NM_003334.4:c.1400G>A | Hemizygous | X-linked, Recessive | Monies et al. 2017 |