Dysmorphism - multiple structural anomalies
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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23
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OrphanetNr:
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1780
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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:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal recessive inheritance
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0000072)
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Hydroureter |
Frequent [Orphanet]
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146 / 7739
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2
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(HPO:0002714)
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Downturned corners of mouth |
Very frequent [Orphanet]
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98 / 7739
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3
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(HPO:0000470)
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Short neck |
Very frequent [Orphanet]
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345 / 7739
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4
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(HPO:0000316)
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Hypertelorism |
Very frequent [Orphanet]
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644 / 7739
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5
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(HPO:0005105)
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Abnormal nasal morphology |
Very frequent [Orphanet]
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114 / 7739
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6
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(HPO:0000465)
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Webbed neck |
Very frequent [Orphanet]
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81 / 7739
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7
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(HPO:0000160)
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Narrow mouth |
Very frequent [Orphanet]
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188 / 7739
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8
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(HPO:0000463)
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Anteverted nares |
Very frequent [Orphanet]
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305 / 7739
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9
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(HPO:0000582)
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Upslanted palpebral fissure |
Very frequent [Orphanet]
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185 / 7739
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10
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(HPO:0000357)
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Abnormal location of ears |
Very frequent [Orphanet]
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328 / 7739
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11
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(HPO:0003422)
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Vertebral segmentation defect |
Very frequent [Orphanet]
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95 / 7739
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12
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(HPO:0002575)
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Tracheoesophageal fistula |
Frequent [Orphanet]
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54 / 7739
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13
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(HPO:0000775)
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Abnormality of the diaphragm |
Frequent [Orphanet]
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62 / 7739
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14
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(HPO:0004378)
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Abnormality of the anus |
Frequent [Orphanet]
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34 / 7739
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15
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(HPO:0001511)
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Intrauterine growth retardation |
Frequent [Orphanet]
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358 / 7739
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16
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(HPO:0001636)
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Tetralogy of Fallot |
Frequent [Orphanet]
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104 / 7739
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17
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(HPO:0001629)
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Ventricular septal defect |
Frequent [Orphanet]
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316 / 7739
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18
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(HPO:0001669)
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Transposition of the great arteries |
Frequent [Orphanet]
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36 / 7739
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19
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(HPO:0001252)
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Muscular hypotonia |
Very frequent [Orphanet]
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990 / 7739
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20
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(HPO:0007370)
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Aplasia/Hypoplasia of the corpus callosum |
Frequent [Orphanet]
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180 / 7739
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21
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(HPO:0012905)
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Euryblepharon |
Very frequent [Orphanet]
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12 / 7739
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22
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(HPO:0400004)
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Long ear |
Frequent [Orphanet]
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94 / 7739
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23
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(HPO:0001334)
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Communicating hydrocephalus |
Frequent [Orphanet]
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32 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |