Intellectual deficit, X-linked - macrocephaly - macro-orchidism
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Johnson syndrome |
| Number of Symptoms | 3 |
| OrphanetNr: | 85320 |
| OMIM Id: |
|
| ICD-10: |
|
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | 12 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:0000053) | Macroorchidism | Very frequent [Orphanet] | 18 / 7739 | |||
|
|
(HPO:0000256) | Macrocephaly | Very frequent [Orphanet] | 298 / 7739 | |||
|
|
(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|