Intellectual deficit - hypotonia - skin hyperpigmentation
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Medrano-Roldan syndrome
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Number of Symptoms
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21
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OrphanetNr:
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3050
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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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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Rare genetic intellectual deficit with developmental anomaly
-Rare genetic disease
Rare intellectual deficit with developmental anomaly
-Rare neurologic disease
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1
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(HPO:0000159)
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Abnormality of the lip |
Very frequent [Orphanet]
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33 / 7739
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2
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(HPO:0000194)
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Open mouth |
Very frequent [Orphanet]
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70 / 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:0000311)
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Round face |
Very frequent [Orphanet]
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104 / 7739
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5
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(HPO:0000457)
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Depressed nasal ridge |
Very frequent [Orphanet]
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85 / 7739
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6
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(HPO:0002705)
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High, narrow palate |
Very frequent [Orphanet]
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308 / 7739
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7
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(HPO:0002007)
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Frontal bossing |
Very frequent [Orphanet]
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366 / 7739
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8
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(HPO:0000293)
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Full cheeks |
Very frequent [Orphanet]
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85 / 7739
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9
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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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10
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(HPO:0000768)
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Pectus carinatum |
Very frequent [Orphanet]
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136 / 7739
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11
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(HPO:0004209)
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Clinodactyly of the 5th finger |
Very frequent [Orphanet]
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288 / 7739
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12
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(HPO:0000954)
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Single transverse palmar crease |
Very frequent [Orphanet]
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162 / 7739
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13
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(HPO:0100559)
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Lower limb asymmetry |
Very frequent [Orphanet]
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30 / 7739
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14
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(HPO:0002024)
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Malabsorption |
Very frequent [Orphanet]
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142 / 7739
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15
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(HPO:0001537)
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Umbilical hernia |
Very frequent [Orphanet]
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206 / 7739
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16
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(HPO:0004322)
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Short stature |
Very frequent [Orphanet]
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1232 / 7739
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17
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(HPO:0007477)
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Abnormal dermatoglyphics |
Very frequent [Orphanet]
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72 / 7739
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18
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(HPO:0007400)
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Irregular hyperpigmentation |
Very frequent [Orphanet]
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72 / 7739
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19
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(HPO:0002205)
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Recurrent respiratory infections |
Very frequent [Orphanet]
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254 / 7739
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20
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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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21
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(HPO:0012758)
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Neurodevelopmental delay |
Very frequent [Orphanet]
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949 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |