MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 31 |
| OrphanetNr: | |
| OMIM Id: |
608624
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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:0000286) | Epicanthus | 371 / 7739 | ||||
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(HPO:0005280) | Depressed nasal bridge | 381 / 7739 | ||||
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(HPO:0000179) | Thick lower lip vermilion | 72 / 7739 | ||||
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(HPO:0002007) | Frontal bossing | 366 / 7739 | ||||
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(HPO:0012471) | Thick vermilion border | 115 / 7739 | ||||
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(HPO:0000463) | Anteverted nares | 305 / 7739 | ||||
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(HPO:0011800) | Midface retrusion | 221 / 7739 | ||||
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(HPO:0000160) | Narrow mouth | 188 / 7739 | ||||
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(HPO:0007933) | Broad lateral eyebrow | 1 / 7739 | ||||
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(HPO:0000272) | Malar flattening | 277 / 7739 | ||||
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(HPO:0011220) | Prominent forehead | 137 / 7739 | ||||
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(HPO:0000508) | Ptosis | 459 / 7739 | ||||
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(HPO:0000391) | Thickened helices | 8 / 7739 | ||||
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(HPO:0008551) | Microtia | 98 / 7739 | ||||
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(HPO:0000396) | Overfolded helix | 21 / 7739 | ||||
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(HPO:0000410) | Mixed hearing impairment | 22 / 7739 | ||||
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(HPO:0000369) | Low-set ears | 372 / 7739 | ||||
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(HPO:0001328) | Specific learning disability | 114 / 7739 | ||||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0002750) | Delayed skeletal maturation | 250 / 7739 | ||||
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(HPO:0001156) | Brachydactyly syndrome | 180 / 7739 | ||||
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(HPO:0001513) | Obesity | 172 / 7739 | ||||
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(HPO:0001943) | Hypoglycemia | 131 / 7739 | ||||
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(HPO:0008947) | Infantile muscular hypotonia | 482 / 7739 | ||||
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(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
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(HPO:0001319) | Neonatal hypotonia | 101 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
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(HPO:0010547) | Muscle flaccidity | 466 / 7739 | ||||
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(MedDRA:10072883) | Brachydactyly | 153 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Coarse scalp hair | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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