N syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
NSX |
| Number of Symptoms | 21 |
| OrphanetNr: | 2608 |
| OMIM Id: |
310465
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| ICD-10: |
Q87.8 |
| UMLs: |
C2936859 |
| MeSH: |
C536108 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 3 cases [Orphanet] |
| Inheritance: |
X-linked recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Inherited cancer-predisposing syndrome
-Rare genetic disease -Rare oncologic disease Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit -Rare developmental defect during embryogenesis -Rare genetic disease Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0000035) | Abnormality of the testis | Very frequent [Orphanet] | 296 / 7739 | |||
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(HPO:0000047) | Hypospadias | Very frequent [Orphanet] | 250 / 7739 | |||
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(HPO:0000028) | Cryptorchidism | 347 / 7739 | ||||
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(HPO:0000485) | Megalocornea | Very frequent [Orphanet] | 26 / 7739 | |||
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(HPO:0000505) | Visual impairment | Very frequent [Orphanet] | 297 / 7739 | |||
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(HPO:0000365) | Hearing impairment | 539 / 7739 | ||||
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(HPO:0000598) | Abnormality of the ear | Very frequent [Orphanet] | 98 / 7739 | |||
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(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001257) | Spasticity | 251 / 7739 | ||||
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(HPO:0001276) | Hypertonia | Very frequent [Orphanet] | 317 / 7739 | |||
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(HPO:0002488) | Acute leukemia | Very frequent [Orphanet] | 29 / 7739 | |||
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(HPO:0003220) | Abnormality of chromosome stability | Very frequent [Orphanet] | 98 / 7739 | |||
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(HPO:0002664) | Neoplasm | 111 / 7739 | ||||
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(HPO:0001417) | X-linked inheritance | 173 / 7739 | ||||
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(OMIM) | Possible DNA polymerase alpha defect | 1 / 7739 | ||||
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(OMIM) | Abnormal auricles | 4 / 7739 | ||||
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(OMIM) | Lymphoblastic leukemia with mediastinal mass | 1 / 7739 | ||||
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(OMIM) | Large cornea | 4 / 7739 | ||||
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(OMIM) | Laterally overlapping upper eyelids | 1 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|