Grix-Blankenship-Peterson syndrome
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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26
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OrphanetNr:
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2099
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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:0000035)
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Abnormality of the testis |
Frequent [Orphanet]
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296 / 7739
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2
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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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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:0000343)
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Long philtrum |
Very frequent [Orphanet]
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262 / 7739
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5
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(HPO:0010285)
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Oral synechia |
Very frequent [Orphanet]
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31 / 7739
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6
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(HPO:0000252)
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Microcephaly |
Very frequent [Orphanet]
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832 / 7739
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7
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(HPO:0000168)
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Abnormality of the gingiva |
Very frequent [Orphanet]
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51 / 7739
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8
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(HPO:0000174)
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Abnormality of the palate |
Frequent [Orphanet]
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298 / 7739
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9
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(HPO:0100540)
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Palpebral edema |
Very frequent [Orphanet]
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31 / 7739
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10
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(HPO:0000574)
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Thick eyebrow |
Very frequent [Orphanet]
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96 / 7739
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11
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(HPO:0000426)
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Prominent nasal bridge |
Very frequent [Orphanet]
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121 / 7739
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12
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(HPO:0010297)
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Bifid tongue |
Very frequent [Orphanet]
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17 / 7739
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13
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(HPO:0000632)
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Lacrimation abnormality |
Frequent [Orphanet]
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42 / 7739
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14
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(HPO:0001276)
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Hypertonia |
Very frequent [Orphanet]
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317 / 7739
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15
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(HPO:0001250)
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Seizures |
Frequent [Orphanet]
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1245 / 7739
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16
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(HPO:0001172)
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Abnormality of the thumb |
Very frequent [Orphanet]
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103 / 7739
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17
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(HPO:0011001)
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Increased bone mineral density |
Very frequent [Orphanet]
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78 / 7739
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18
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(HPO:0009466)
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Radial deviation of finger |
Frequent [Orphanet]
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101 / 7739
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19
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(HPO:0005107)
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Abnormality of the sacrum |
Very frequent [Orphanet]
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18 / 7739
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20
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(HPO:0000772)
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Abnormality of the ribs |
Frequent [Orphanet]
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146 / 7739
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21
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(HPO:0004299)
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Hernia of the abdominal wall |
Very frequent [Orphanet]
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176 / 7739
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22
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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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23
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(HPO:0000958)
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Dry skin |
Very frequent [Orphanet]
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152 / 7739
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24
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(HPO:0011362)
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Abnormal hair quantity |
Very frequent [Orphanet]
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92 / 7739
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25
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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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26
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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 |