Night blindness - skeletal anomalies - dysmorphism
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Hunter-Thompson-Reed syndrome
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Number of Symptoms
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23
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OrphanetNr:
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1390
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OMIM Id:
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ICD-10:
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Q87.8
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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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X-linked 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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Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare developmental defect during embryogenesis
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1
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(HPO:0000494)
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Downslanted palpebral fissures |
Frequent [Orphanet]
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328 / 7739
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2
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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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3
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(HPO:0000277)
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Abnormality of the mandible |
Very frequent [Orphanet]
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394 / 7739
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4
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(HPO:0000286)
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Epicanthus |
Very frequent [Orphanet]
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371 / 7739
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5
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(HPO:0000272)
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Malar flattening |
Very frequent [Orphanet]
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277 / 7739
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6
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(HPO:0000664)
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Synophrys |
Very frequent [Orphanet]
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112 / 7739
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7
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(HPO:0000670)
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Carious teeth |
Very frequent [Orphanet]
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145 / 7739
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8
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(HPO:0000366)
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Abnormality of the nose |
Frequent [Orphanet]
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56 / 7739
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9
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(HPO:0000510)
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Rod-cone dystrophy |
Frequent [Orphanet]
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266 / 7739
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10
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(HPO:0008046)
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Abnormality of the retinal vasculature |
Very frequent [Orphanet]
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41 / 7739
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11
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(HPO:0001100)
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Heterochromia iridis |
Frequent [Orphanet]
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31 / 7739
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12
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(HPO:0000504)
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Abnormality of vision |
Very frequent [Orphanet]
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22 / 7739
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13
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(HPO:0000545)
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Myopia |
Very frequent [Orphanet]
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286 / 7739
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14
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(HPO:0000512)
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Abnormal electroretinogram |
Very frequent [Orphanet]
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61 / 7739
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15
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(HPO:0000508)
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Ptosis |
Very frequent [Orphanet]
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459 / 7739
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16
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(HPO:0000357)
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Abnormal location of ears |
Frequent [Orphanet]
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328 / 7739
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17
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(HPO:0001276)
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Hypertonia |
Frequent [Orphanet]
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317 / 7739
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18
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(HPO:0002650)
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Scoliosis |
Frequent [Orphanet]
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705 / 7739
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19
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(HPO:0001382)
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Joint hypermobility |
Very frequent [Orphanet]
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231 / 7739
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20
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(HPO:0004279)
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Short palm |
Very frequent [Orphanet]
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323 / 7739
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21
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(HPO:0004209)
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Clinodactyly of the 5th finger |
Frequent [Orphanet]
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288 / 7739
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22
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(HPO:0000774)
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Narrow chest |
Very frequent [Orphanet]
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167 / 7739
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23
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(HPO:0012758)
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Neurodevelopmental delay |
Frequent [Orphanet]
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949 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |