SCAR24 is a rare neurological disorder with varying severity of clinical features. Movement disorders are a common feature in all patients described to date. Intellectual disability may or may not be present.
Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of the nervous system
3q22.1
SCAR24 is a rare neurological disorder with varying severity of clinical features. Movement disorders are a common feature in all patients described to date. Intellectual disability may or may not be present.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 617133.1.1 | Lebanon | Female | Yes | Yes | Irritability; Hypotonia; Feeding difficu... Irritability; Hypotonia; Feeding difficulties; Respiratory insufficiency; Abnormality of peripheral nerve conduction; Death in infancy  | NM_024818.5:c.31C>T | Homozygous | Autosomal, Recessive | Cabrera-Serrano et al. 2020 | Australian family or... |
| 617133.1.2 | Lebanon | Female | Yes | Yes | Irritability; Hypotonia; Feeding difficu... Irritability; Hypotonia; Feeding difficulties; Respiratory insufficiency; Death in infancy | NM_024818.5:c.31C>T | Homozygous | Autosomal, Recessive | Cabrera-Serrano et al. 2020 | Sibling of 617133.1.... |
| 617133.1.3 | Lebanon | Female | Yes | Yes | Irritability; Hypotonia; Feeding difficu... Irritability; Hypotonia; Feeding difficulties; Respiratory insufficiency; Death in infancy | NM_024818.5:c.31C>T | Homozygous | Autosomal, Recessive | Cabrera-Serrano et al. 2020 | Cousin of of 617133.... |
| 617133.1.4 | Lebanon | Male | Yes | Yes | Irritability; Hypotonia; Feeding difficu... Irritability; Hypotonia; Feeding difficulties; Respiratory insufficiency; Death in infancy | NM_024818.5:c.31C>T | Homozygous | Autosomal, Recessive | Cabrera-Serrano et al. 2020 | Sibling of 617133.1.... |