Endocrine, nutritional and metabolic diseases
Metabolic disorders
Autosomal recessive
8p23.3
The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN8 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 600143.1 | Lebanon | Female | Yes | Seizure; Ataxia; Hypotonia; Global de... Seizure; Ataxia; Hypotonia; Global developmental delay; Encephalopathy; Developmental regression; Brain atrophy; Neurodevelopmental delay  | NM_018941.3:c.610C>T | Homozygous | Autosomal, Recessive | Nair et al. 2018 | ||
| 600143.2 | Saudi Arabia | Male | Yes | Yes | Microcephaly; Motor delay; Developmental... Microcephaly; Motor delay; Developmental regression; Periventricular leukomalacia; Ichthyosis; Seizure; Spasticity | NM_018941.4:c.209G>A | Homozygous | Autosomal, Recessive | Monies et al. 2019 |