Autosomal recessive spinocerebellar ataxia-20 is a neurodevelopmental disorder characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
6q14.3
Autosomal recessive spinocerebellar ataxia-20 is a neurodevelopmental disorder characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 616354.1 | Lebanon | Unknown | No | Global developmental delay; Cerebellar a... Global developmental delay; Cerebellar atrophy; Macrocephaly; Delayed myelination; Dilation of lateral ventricles; Arachnoid cyst  | NM_020468.5:c.57C>A, NM_153816.6:c.2175delC | Homozygous | Autosomal, Recessive | Jalkh et al. 2019 | Parents originate fr... | |
| 616354.2.1 | United Arab Emirates | Female | Yes | Yes | Intellectual disability; Motor delay; Ab... Intellectual disability; Motor delay; Absent speech; Delayed social development; Hypotonia; Nystagmus; Cerebellar atrophy; Cerebral cortical atrophy; Coarse facial features; Retrocerebellar cyst; Sensorineural hearing impairment; Macroglossia; Atrial septal defect | NM_153816.6:c.1132C>T | Homozygous | Autosomal, Recessive | Akizu et al. 2015 | |
| 616354.2.2 | United Arab Emirates | Female | Yes | Yes | Intellectual disability; Motor delay; Ab... Intellectual disability; Motor delay; Absent speech; Delayed social development; Hypotonia; Nystagmus; Cerebellar atrophy; Cerebral cortical atrophy; Coarse facial features; Retrocerebellar cyst; Sensorineural hearing impairment; Macroglossia; Myopia | NM_153816.6:c.1132C>T | Homozygous | Autosomal, Recessive | Akizu et al. 2015 | Sister of 616354.2.1 |
| 616354.2.3 | United Arab Emirates | Male | Yes | Yes | Intellectual disability; Motor delay; Ab... Intellectual disability; Motor delay; Absent speech; Delayed social development; Hypotonia; Nystagmus; Cerebellar atrophy; Cerebral cortical atrophy; Coarse facial features; Retrocerebellar cyst; Sensorineural hearing impairment; Macroglossia | NM_153816.6:c.1132C>T | Homozygous | Autosomal, Recessive | Akizu et al. 2015 | Brother of 616354.2.... |
| 616354.3.1 | Egypt | Male | Yes | Yes | Intellectual disability; Motor delay; Ab... Intellectual disability; Motor delay; Absent speech; Autistic behavior; Delayed social development; Hypotonia; Nystagmus; Cerebellar atrophy; Cerebral cortical atrophy; Coarse facial features; Retrocerebellar cyst; Macroglossia | NM_153816.6:c.1132C>T | Homozygous | Autosomal, Recessive | Akizu et al. 2015 | |
| 616354.3.2 | Egypt | Male | Yes | Yes | Intellectual disability; Motor delay; Ab... Intellectual disability; Motor delay; Absent speech; Autistic behavior; Delayed social development; Seizure; Hypotonia; Nystagmus; Cerebellar atrophy; Cerebral cortical atrophy; Coarse facial features; Retrocerebellar cyst; Macroglossia | NM_153816.6:c.1132C>T | Homozygous | Autosomal, Recessive | Akizu et al. 2015 | Brother of 616354.3.... |
| 616354.4.1 | Egypt | Male | Yes | Yes | Intellectual disability; Motor delay; Ab... Intellectual disability; Motor delay; Absent speech; Autistic behavior; Delayed social development; Hypotonia; Nystagmus; Inability to walk; Cerebellar atrophy; Cerebral cortical atrophy; Coarse facial features; Joint stiffness; Kyphoscoliosis; Hypertrichosis; Skeletal muscle atrophy | NM_153816.6:c.1182del | Homozygous | Autosomal, Recessive | Akizu et al. 2015 | |
| 616354.4.2 | Egypt | Female | Yes | Yes | Intellectual disability; Motor delay; Ab... Intellectual disability; Motor delay; Absent speech; Autistic behavior; No social interaction; Seizure; Hypotonia; Nystagmus; Inability to walk; Cerebellar atrophy; Cerebral cortical atrophy; Coarse facial features; Joint stiffness; Kyphoscoliosis; Hypertrichosis; Skeletal muscle atrophy | NM_153816.6:c.1182del | Homozygous | Autosomal, Recessive | Akizu et al. 2015 | Sister of 616354.4.1 |
| 616354.4.3 | Egypt | Female | Yes | Yes | Intellectual disability; Motor delay; Ab... Intellectual disability; Motor delay; Absent speech; Autistic behavior; Delayed social development; Seizure; Hypotonia; Nystagmus; Cerebellar atrophy; Cerebral cortical atrophy; Coarse facial features; Joint stiffness; Scoliosis; Pectus carinatum; Macroglossia; Hypertrichosis; Skeletal muscle atrophy | NM_153816.6:c.1182del | Homozygous | Autosomal, Recessive | Akizu et al. 2015 | Sister of 616354.4.1 |
| 616354.5 | Egypt | Male | No | Yes | Intellectual disability; Motor delay; De... Intellectual disability; Motor delay; Delayed speech and language development; Delayed social development; Seizure; Hypotonia; Nystagmus; Inability to walk; Cerebellar atrophy; Coarse facial features; Joint stiffness; Scoliosis; Pectus carinatum; Hepatosplenomegaly; Hernia | NM_153816.6:c.428T>A | Homozygous | Autosomal, Recessive | Akizu et al. 2015 | |
| 616354.6 | Yemen | Female | No | Yes | Intellectual disability; Motor delay; Ab... Intellectual disability; Motor delay; Absent speech; Delayed social development; Seizure; Hypotonia; Nystagmus; Cerebellar atrophy; Cerebral cortical atrophy; Coarse facial features; Joint stiffness; Kyphoscoliosis; Sensorineural hearing impairment; Macroglossia; Hypertrichosis; Skeletal muscle atrophy | NM_153816.6:c.809_813del | Homozygous | Autosomal, Recessive | Akizu et al. 2015 | |
| 616354.7 | Egypt | Yes | Yes | Intellectual disability; Autistic behavi... Intellectual disability; Autistic behavior; Delayed gross motor development; Poor fine motor coordination; Absent speech; Delayed gross motor development; Hypotonia; Dysdiadochokinesis; Cerebellar atrophy; Retrocerebellar cyst; Coarse facial features; Optic atrophy; Sensorineural hearing impairment ; Clinodactyly; Hepatosplenomegaly; Ureteral duplication; Hydronephrosis | NM_153816.6:c.1132C>T | Homozygous | Autosomal, Recessive | Akizu et al. 2015 | The patient had 3 af... | |
| 616354.8.1 | Egypt | Male | Yes | Yes | Intellectual disability; Autistic behavi... Intellectual disability; Autistic behavior; Motor delay; Delayed speech and language development; Delayed social development ; Hypotonia; Cerebellar atrophy; Coarse facial features; Hepatosplenomegaly; Patent ductus arteriosus | NM_153816.6:c.1132C>T | Homozygous | Autosomal, Recessive | Akizu et al. 2015 | |
| 616354.8.2 | Egypt | Male | Yes | Yes | Intellectual disability; Autistic behavi... Intellectual disability; Autistic behavior; Motor delay; Delayed speech and language development; Delayed social development ; Hypotonia; Cerebellar atrophy; Coarse facial features; Hepatosplenomegaly | NM_153816.6:c.1132C>T | Homozygous | Autosomal, Recessive | Akizu et al. 2015 | Brother of 616354.8.... |
| 616354.9 | Egypt | Male | Yes | Yes | Intellectual disability; Autistic behavi... Intellectual disability; Autistic behavior; Motor delay; Delayed speech and language development; Delayed social development ; Hypotonia; Cerebellar atrophy; Retrocerebellar cyst; Coarse facial features; Hypertrichosis; Macroglossia | NM_153816.6:c.645dup | Homozygous | Autosomal, Recessive | Akizu et al. 2015 | The patient had a si... |
| 616354.10 | Egypt | Female | No | Yes | Intellectual disability; Autistic behavi... Intellectual disability; Autistic behavior; Motor delay; Delayed speech and language development; Delayed social development ; Hypotonia; Cerebellar atrophy; Nystagmus; Coarse facial features; Hypertrichosis; Macroglossia | NM_153816.6:c.912+5G>A | Homozygous | Autosomal, Recessive | Akizu et al. 2015 | |
| 616354.11 | Egypt | No | Yes | Intellectual disability; Motor delay; De... Intellectual disability; Motor delay; Delayed speech and language development; Delayed social development ; Hypotonia; Cerebellar atrophy; Hepatosplenomegaly; Inability to walk; Coarse facial features | NM_153816.6:c.645dup | Homozygous | Autosomal, Recessive | Akizu et al. 2015 |