Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 3 |
| OrphanetNr: | 88643 |
| 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: | 2 cases [Orphanet] |
| Inheritance: |
Unknown [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Syndromic hypothyroidism
-Rare endocrine disease -Rare genetic disease |
Symptom Information:
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(HPO:0000821) | Hypothyroidism | Very frequent [Orphanet] | 141 / 7739 | |||
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(HPO:0001513) | Obesity | Very frequent [Orphanet] | 172 / 7739 | |||
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(HPO:0001638) | Cardiomyopathy | Very frequent [Orphanet] | 192 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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