Diseases of the nervous system
Cerebral palsy and other paralytic syndromes
Autosomal recessive
15q21.2
Spastic paraplegia-51 (SPG51) is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity. Affected individuals also have global developmental delay with impaired intellectual development and poor or absent speech. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 613744.1 | United Arab Emirates | Female | Yes | Yes | Abnormality of brain morphology; Thin co... Abnormality of brain morphology; Thin corpus callosum; Hypotonia; Global developmental delay  | NM_007347.5:c.3214_3215del | Homozygous | Autosomal, Recessive | Saleh et al. 2021 | Similarly affected c... |