Diseases of the nervous system
Cerebral palsy and other paralytic syndromes
Autosomal recessive
7q22.1
Spastic paraplegia-50 (SPG50) is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severely impaired intellectual development with poor or absent speech development. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 612936.1 | Saudi Arabia | Microcephaly; Delayed speech and languag... Microcephaly; Delayed speech and language development; Spasticity; Cerebral hypomyelination; Hypoplasia of the corpus callosum; Cerebral atrophy  | NM_004722.4:c.952C>T | Homozygous | Autosomal, Recessive | Alazami et al. 2015 |