MYELODYSPLASIA, IMMUNODEFICIENCY, FACIAL DYSMORPHISM, SHORT STATURE,AND PSYCHOMOTOR DELAY
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 36 |
| OrphanetNr: | |
| OMIM Id: |
601347
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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: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0008734) | Decreased testicular size | 105 / 7739 | ||||
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(HPO:0000076) | Vesicoureteral reflux | 94 / 7739 | ||||
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(HPO:0000073) | Ureteral duplication | 11 / 7739 | ||||
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(HPO:0000160) | Narrow mouth | 188 / 7739 | ||||
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(HPO:0000179) | Thick lower lip vermilion | 72 / 7739 | ||||
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(HPO:0012471) | Thick vermilion border | 115 / 7739 | ||||
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(HPO:0005280) | Depressed nasal bridge | 381 / 7739 | ||||
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(HPO:0000322) | Short philtrum | 130 / 7739 | ||||
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(HPO:0011220) | Prominent forehead | 137 / 7739 | ||||
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(HPO:0002007) | Frontal bossing | 366 / 7739 | ||||
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(HPO:0000272) | Malar flattening | 277 / 7739 | ||||
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(HPO:0011800) | Midface retrusion | 221 / 7739 | ||||
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(HPO:0000545) | Myopia | 286 / 7739 | ||||
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(HPO:0000369) | Low-set ears | 372 / 7739 | ||||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0002570) | Steatorrhea | 31 / 7739 | ||||
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(HPO:0004325) | Decreased body weight | 492 / 7739 | ||||
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(HPO:0004322) | Short stature | 1232 / 7739 | ||||
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(HPO:0000963) | Thin skin | 96 / 7739 | ||||
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(HPO:0007522) | Increased number of skin folds | 1 / 7739 | ||||
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(HPO:0005180) | Tricuspid regurgitation | 20 / 7739 | ||||
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(HPO:0001659) | Aortic regurgitation | 36 / 7739 | ||||
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(HPO:0001631) | Atria septal defect | 274 / 7739 | ||||
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(HPO:0002863) | Myelodysplasia | 30 / 7739 | ||||
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(HPO:0001875) | Neutropenia | 83 / 7739 | ||||
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(HPO:0001903) | Anemia | 289 / 7739 | ||||
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(HPO:0004808) | Acute myeloid leukemia | 14 / 7739 | ||||
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(HPO:0002110) | Bronchiectasis | 73 / 7739 | ||||
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(HPO:0002719) | Recurrent infections | 107 / 7739 | ||||
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(MedDRA:10068026) | Sweat test normal | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0030037) | Bifid ureter | 2 / 7739 | ||||
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(OMIM) | Anemia, mild | 6 / 7739 | ||||
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(OMIM) | Normal constitutional karyotype | 1 / 7739 | ||||
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(OMIM) | Abnormal bone marrow karyotype, t(8,21) | 1 / 7739 | ||||
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(OMIM) | Bifid ureter | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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