Endocrine, nutritional and metabolic diseases
Metabolic disorders
Autosomal recessive
11p15.5
The neuronal ceroid lipofuscinoses 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 clinical course includes progressive dementia, seizures, and progressive visual failure. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 607596.1 | Saudi Arabia | Female | Yes | Yes | Dysarthria; Global developmental delay; ... Dysarthria; Global developmental delay; Delayed myelination  | NM_003384.3:c.236C>T | Homozygous | Autosomal, Recessive | Shaheen et al. 2019 | |
| 607596.2 | Saudi Arabia | Female | No | Yes | Pachygyria; Dandy-Walker malformation; A... Pachygyria; Dandy-Walker malformation; Abnormality of neuronal migration; Prominent nasal tip; Thin upper lip vermilion; Macrotia; Global developmental delay ; Talipes equinovarus; Scoliosis; Seizure | NM_003384.3:c.236C>T | Homozygous | Autosomal, Recessive | Shaheen et al. 2019 | |
| 610127.1.1 | Saudi Arabia | Female | Yes | Yes | Lissencephaly; Abnormality of neuronal m... Lissencephaly; Abnormality of neuronal migration; Exaggerated startle response | NM_001909.5:c.1155_1169dup | Homozygous | Autosomal, Recessive | Shaheen et al. 2019 | |
| 610127.1.2 | Saudi Arabia | Female | Yes | Yes | | NM_001909.5:c.1155_1169dup | Homozygous | Autosomal, Recessive | Shaheen et al. 2019 | Relative of 610127.1... |
| 610127.1.3 | Saudi Arabia | Male | Yes | Yes | | NM_001909.5:c.1155_1169dup | Homozygous | Autosomal, Recessive | Shaheen et al. 2019 | Relative of 610127.1... |
| 610127.1.4 | Saudi Arabia | Female | Yes | Yes | | NM_001909.5:c.1155_1169dup | Homozygous | Autosomal, Recessive | Shaheen et al. 2019 | Relative of 610127.1... |