Endocrine, nutritional and metabolic diseases
Metabolic disorders
Autosomal Recessive
15q23
Neuronal ceroid lipofuscinosis-6A (CLN6A) is an autosomal recessive neurodegenerative disorder with a variable age at onset in the first years of life after normal early development. Affected individuals have progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 601780.1 | Saudi Arabia | Male | No | Yes | Neurodevelopmental abnormality Neurodevelopmental abnormality  | NM_017882.3:c.791CCT[1] | Homozygous | Autosomal, Recessive | Monies et al. 2017 |