Intellectual deficit, X-linked, Zorick type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 2 |
| OrphanetNr: | 85337 |
| OMIM Id: |
|
| ICD-10: |
|
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | 6 cases [Orphanet] |
| Inheritance: |
X-linked recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
X-linked syndromic intellectual deficit
-Rare genetic disease -Rare neurologic disease |
Symptom Information:
|
|
(HPO:0003198) | Myopathy | Very frequent [Orphanet] | 151 / 7739 | |||
|
|
(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|