Intellectual deficit, Wolff type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Wolff-Zimmermann syndrome |
| Number of Symptoms | 28 |
| OrphanetNr: | 3080 |
| OMIM Id: |
277990
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| ICD-10: |
Q87.0 |
| 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: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-Rare developmental defect during embryogenesis -Rare genetic disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease |
Symptom Information:
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(HPO:0000047) | Hypospadias | Very frequent [Orphanet] | 250 / 7739 | |||
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(HPO:0000035) | Abnormality of the testis | Frequent [Orphanet] | 296 / 7739 | |||
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(HPO:0000582) | Upslanted palpebral fissure | Very frequent [Orphanet] | 185 / 7739 | |||
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(HPO:0000202) | Oral cleft | Frequent [Orphanet] | 120 / 7739 | |||
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(HPO:0002162) | Low posterior hairline | Very frequent [Orphanet] | 88 / 7739 | |||
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(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0012471) | Thick vermilion border | Very frequent [Orphanet] | 115 / 7739 | |||
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(HPO:0000340) | Sloping forehead | Frequent [Orphanet] | 86 / 7739 | |||
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(HPO:0000204) | Cleft upper lip | Frequent [Orphanet] | 193 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0005105) | Abnormal nasal morphology | Very frequent [Orphanet] | 114 / 7739 | |||
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(HPO:0000486) | Strabismus | Frequent [Orphanet] | 576 / 7739 | |||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001250) | Seizures | Frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0001387) | Joint stiffness | Very frequent [Orphanet] | 322 / 7739 | |||
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(HPO:0004209) | Clinodactyly of the 5th finger | Frequent [Orphanet] | 288 / 7739 | |||
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(HPO:0001176) | Large hands | Very frequent [Orphanet] | 43 / 7739 | |||
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(HPO:0002650) | Scoliosis | Frequent [Orphanet] | 705 / 7739 | |||
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(HPO:0001172) | Abnormality of the thumb | Frequent [Orphanet] | 103 / 7739 | |||
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(HPO:0100490) | Camptodactyly of finger | Very frequent [Orphanet] | 212 / 7739 | |||
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(HPO:0002750) | Delayed skeletal maturation | Very frequent [Orphanet] | 250 / 7739 | |||
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(HPO:0009882) | Short distal phalanx of finger | Very frequent [Orphanet] | 125 / 7739 | |||
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(HPO:0004299) | Hernia of the abdominal wall | Frequent [Orphanet] | 176 / 7739 | |||
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(HPO:0002250) | Abnormality of the large intestine | Frequent [Orphanet] | 32 / 7739 | |||
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(HPO:0000951) | Abnormality of the skin | Frequent [Orphanet] | 147 / 7739 | |||
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(HPO:0001597) | Abnormality of the nail | Frequent [Orphanet] | 115 / 7739 | |||
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(HPO:0400004) | Long ear | Very frequent [Orphanet] | 94 / 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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