Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development. [From OMIM]
Diseases of the nervous system
Cerebral palsy and other paralytic syndromes
Autosomal recessive
14q12
Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| 614067.1 | Lebanon | Female | Yes | Abnormality of the nervous system; Abno... Abnormality of the nervous system; Abnormality of the thyroid gland; Intellectual disability; Global developmental delay; Motor delay; Peripheral neuropathy  | NM_007077.4:c.c.138+3_138+6del | Homozygous | Autosomal, Recessive | Nair et al. 2018 | ||
| 614067.2 | United Arab Emirates | Female | No | Yes | Global developmental delay; Attention de... Global developmental delay; Attention deficit hyperactivity disorder; Intellectual disability; Microcephaly; Spasticity | NM_001128126.1:c.295-3C>A | Homozygous | Autosomal, Recessive | Saleh et al. 2021 |