X-linked non-syndromic intellectual deficit
General Information (adopted from Orphanet):
| Synonyms, Signs: |
X-linked non-specific intellectual deficit |
| Number of Symptoms | 3 |
| OrphanetNr: | 777 |
| OMIM Id: |
300046
300047 300062 300114 300115 300143 300210 300271 300324 300355 300372 300387 300419 300428 300433 300436 300454 300498 300504 300505 300518 300551 300558 300705 300716 300802 300803 300844 300848 300849 300850 300851 300852 309530 309549 |
| 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: |
X-linked recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
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:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0001419) | X-linked recessive inheritance | 189 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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