Diseases of the nervous system
Systemic atrophies primarily affecting the central nervous system
Autosomal recessive
14q32.31
Hereditary sensory and autonomic neuropathy type IX with developmental delay (HSAN9) is an autosomal recessive neurodevelopmental and neurodegenerative disorder. Clinical features include global developmental delay and intellectual disability, axial and appendicular hypotonia, dysarthria, and an abnormal gait that is often described as ataxic. Other features may include peripheral neuropathy, hyporeflexia, and autonomic dysfunction. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615031.1.1 | United Arab Emirates | Male | Yes | Yes | Global developmental delay; Developmenta... Global developmental delay; Developmental regression; Hypotonia; Impaired smooth pursuit; Gait ataxia; Peripheral neuropathy; Myelopathy; Choking episodes; Leukoencephalopathy; Death in childhood  | NM_014844.5:c.3418T>G | Homozygous | Autosomal, Recessive | Neuser et al. 2021 | Proband |
| 615031.1.2 | United Arab Emirates | Female | Yes | Yes | Global developmental delay; Hypotonia Global developmental delay; Hypotonia | NM_014844.5:c.3418T>G | Homozygous | Autosomal, Recessive | Neuser et al. 2021 | Sister of 615031.1.1 |