Endocrine, nutritional and metabolic diseases
Metabolic disorders
Autosomal recessive
10p12.1
Retinal dystrophy and leukodystrophy (RDLKD) is a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism. Patients exhibit ataxia and spastic paraparesis as well as developmental delay, and may show facial dysmorphism. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 618863.1 | United Arab Emirates | Male | Yes | Yes | Global developmental delay; Ataxia; Nyst... Global developmental delay; Ataxia; Nystagmus; Obesity  | NM_145698.4:c.626-689_937-234delins936+1075_c.936+1230inv | Homozygous | Autosomal, Recessive | Saleh et al. 2021 | Similarly affected s... |
| 618863.2 | United Arab Emirates | Female | No | Yes | Cleft palate; Rod-cone dystrophy; Progre... Cleft palate; Rod-cone dystrophy; Progressive microcephaly; Dysarthria; Delayed speech and language development; Abnormal facial shape; Cerebral hypomyelination; Gait imbalance | NM_145698.4:c.626-689_937-234delins936+1075_c.936+1230inv | Homozygous | Autosomal, Recessive | Ferdinandusse et al. 2017 |