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... |
| 613744.2.1 | Syria | Male | Yes | Yes | Intellectual disability, severe; Neonata... Intellectual disability, severe; Neonatal hypotonia; Hypertonia; Spasticity; Abnormal foot morphology; Joint contracture; Absent speech; Microcephaly; Short stature; Coarse facial features; Bulbous nose | NM_007347.5:c.542+5_542+8del | Homozygous | Autosomal, Recessive | Abou Jamra et al. 2011 | Index patient |
| 613744.2.2 | Syria | Female | Yes | Yes | Intellectual disability, severe; Neonata... Intellectual disability, severe; Neonatal hypotonia; Hypertonia; Spasticity; Abnormal foot morphology; Joint contracture; Absent speech; Microcephaly; Short stature; Coarse facial features; Bulbous nose | NM_007347.5:c.542+5_542+8del | Homozygous | Autosomal, Recessive | Abou Jamra et al. 2011 | Double first cousin ... |