Dentinogenesis imperfecta - short stature - hearing loss - intellectual deficit
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 6 |
| OrphanetNr: | 71267 |
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Prevalence, inheritance and age of onset:
| Prevalence: | 2 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic malformation syndrome with odontal and/or periodontal component
-Rare genetic disease Malformation syndrome with odontal and/or periodontal component -Rare developmental defect during embryogenesis -Rare odontologic disease Malformative syndrome with dentinogenesis imperfecta -Rare developmental defect during embryogenesis -Rare genetic disease -Rare odontologic disease Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0000684) | Delayed eruption of teeth | Very frequent [Orphanet] | 117 / 7739 | |||
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(HPO:0010299) | Abnormality of dentin | Very frequent [Orphanet] | 9 / 7739 | |||
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(HPO:0001999) | Abnormal facial shape | Very frequent [Orphanet] | 169 / 7739 | |||
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(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 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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