Intellectual deficit, X-linked, Stevenson type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 20 |
| OrphanetNr: | 85325 |
| OMIM Id: |
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| 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: | 4 cases [Orphanet] |
| Inheritance: |
X-linked recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-Rare developmental defect during embryogenesis -Rare genetic disease X-linked syndromic intellectual deficit -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0009928) | Thick nasal alae | Very frequent [Orphanet] | 21 / 7739 | |||
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(HPO:0000691) | Microdontia | Frequent [Orphanet] | 104 / 7739 | |||
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(HPO:0010804) | Tented upper lip vermilion | Frequent [Orphanet] | 47 / 7739 | |||
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(HPO:0010761) | Broad columella | Very frequent [Orphanet] | 10 / 7739 | |||
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(HPO:0001999) | Abnormal facial shape | Very frequent [Orphanet] | 169 / 7739 | |||
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(HPO:0100540) | Palpebral edema | Very frequent [Orphanet] | 31 / 7739 | |||
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(HPO:0000574) | Thick eyebrow | Frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0011262) | Crimped helix | Very frequent [Orphanet] | 12 / 7739 | |||
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(HPO:0000356) | Abnormality of the outer ear | Frequent [Orphanet] | 85 / 7739 | |||
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(HPO:0001315) | Reduced tendon reflexes | Very frequent [Orphanet] | 160 / 7739 | |||
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(HPO:0001182) | Tapered finger | Very frequent [Orphanet] | 93 / 7739 | |||
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(HPO:0002857) | Genu valgum | Very frequent [Orphanet] | 144 / 7739 | |||
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(HPO:0001833) | Long foot | Frequent [Orphanet] | 33 / 7739 | |||
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(HPO:0001176) | Large hands | Frequent [Orphanet] | 43 / 7739 | |||
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(HPO:0000098) | Tall stature | Frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0001513) | Obesity | Very frequent [Orphanet] | 172 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Frequent [Orphanet] | 492 / 7739 | |||
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(HPO:0007477) | Abnormal dermatoglyphics | Very frequent [Orphanet] | 72 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 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 |
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