Autosomal recessive nonsyndromic intellectual deficit
General Information (adopted from Orphanet):
| Synonyms, Signs: |
NS-ARID |
| Number of Symptoms | 6 |
| OrphanetNr: | 88616 |
| OMIM Id: |
249500
607417 608443 611090 611091 611092 611093 611094 611095 611096 611097 611107 613192 614020 614202 614208 614249 614329 614333 614339 614340 614341 614342 614343 614344 614345 614346 614347 614499 |
| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare intellectual deficit without developmental anomaly
-Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000486) | Strabismus | 576 / 7739 | ||||
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(HPO:0000639) | Nystagmus | 555 / 7739 | ||||
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(HPO:0006801) | Hyperactive deep tendon reflexes | 21 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0003487) | Babinski sign | 179 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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