Infantile neuronal ceroid lipofuscinosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
INCL Infantile NCL Santavuori-Haltia disease Santavuori disease Hagberg-Santavuori disease |
| Number of Symptoms | 15 |
| OrphanetNr: | 79263 |
| OMIM Id: |
214200
256730 |
| ICD-10: |
E75.4 |
| UMLs: |
C0268281 C2931673 |
| MeSH: |
C537948 |
| MedDRA: |
|
| Snomed: |
58258004 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Cerebral lipidosis with dementia
-Rare genetic disease -Rare neurologic disease Neuronal ceroid lipofuscinosis -Rare eye disease -Rare genetic disease -Rare neurologic disease Progressive myoclonic epilepsy -Rare genetic disease -Rare neurologic disease |
Symptom Information:
|
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
|
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(HPO:0008059) | Aplasia/Hypoplasia of the macula | Very frequent [Orphanet] | 21 / 7739 | |||
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(HPO:0000512) | Abnormal electroretinogram | Very frequent [Orphanet] | 61 / 7739 | |||
|
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(HPO:0000649) | Abnormality of visual evoked potentials | Very frequent [Orphanet] | 34 / 7739 | |||
|
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(HPO:0000572) | Visual loss | Very frequent [Orphanet] | 272 / 7739 | |||
|
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(HPO:0000733) | Stereotypy | Very frequent [Orphanet] | 58 / 7739 | |||
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(HPO:0004374) | Hemiplegia/hemiparesis | Very frequent [Orphanet] | 158 / 7739 | |||
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(HPO:0002353) | EEG abnormality | Very frequent [Orphanet] | 188 / 7739 | |||
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(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0004305) | Involuntary movements | Very frequent [Orphanet] | 50 / 7739 | |||
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(HPO:0001399) | Hepatic failure | 80 / 7739 | ||||
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(HPO:0001743) | Abnormality of the spleen | 37 / 7739 | ||||
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(HPO:0010318) | Aplasia/Hypoplasia of the abdominal wall musculature | Very frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0012795) | Abnormality of the optic disc | Very frequent [Orphanet] | 187 / 7739 | |||
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(HPO:0002120) | Cerebral cortical atrophy | Very frequent [Orphanet] | 187 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|