Endocrine, nutritional and metabolic diseases
Metabolic disorders
5q34
Hypomyelinating leukodystrophy-9 is an autosomal recessive neurologic disorder characterized by onset of delayed psychomotor development, spasticity, and nystagmus in the first year of life. Additional neurologic features such as ataxia and abnormal movements may also occur. Brain imaging shows diffuse hypomyelination affecting all regions of the brain. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 616140.1.1 | United Arab Emirates | Male | Yes | Severe global developmental delay; Nysta... Severe global developmental delay; Nystagmus; Spasticity; Seizure; Microcephaly; Hypotonia; Cerebral hypomyelination; Cerebral atrophy; Cerebellar atrophy  | NM_002887.3:c.1316C>A | Homozygous | Autosomal, Recessive | Mendes et al. 2020 | ||
| 616140.1.2 | United Arab Emirates | Male | Yes | Severe global developmental delay; Visua... Severe global developmental delay; Visual impairment; Seizure; Microcephaly; Hypotonia; Intellectual disability | NM_002887.3:c.1316C>A | Homozygous | Autosomal, Recessive | Mendes et al. 2020 | ||
| 616140.2 | Saudi Arabia | Female | Yes | Yes | Global brain atrophy; Thin corpus callos... Global brain atrophy; Thin corpus callosum; Talipes equinovarus; Bilateral tonic-clonic seizure; Severe global developmental delay; Asthma; Recurrent respiratory infections; Hydrocephalus; Axial hypotonia; Brisk reflexes; EEG abnormality | NM_002887.4:c.104T>G | Homozygous | Autosomal, Recessive | Shaheen et al. 2019 |