Grubben-de Cock-Borghgraef syndrome
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Developmental delay - hypotonia - extremities hypertrophy
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Number of Symptoms
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29
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OrphanetNr:
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2101
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OMIM Id:
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233810
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ICD-10:
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UMLs:
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C2931551
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MeSH:
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C537621
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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
[Omim]
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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:0000311)
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Round face |
Very frequent [Orphanet]
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104 / 7739
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2
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(HPO:0000687)
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Widely spaced teeth |
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40 / 7739
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3
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(HPO:0000164)
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Abnormality of the teeth |
Very frequent [Orphanet]
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291 / 7739
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4
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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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5
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(HPO:0000691)
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Microdontia |
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104 / 7739
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6
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(HPO:0000592)
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Blue sclerae |
Very frequent [Orphanet]
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85 / 7739
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7
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(HPO:0000496)
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Abnormality of eye movement |
Very frequent [Orphanet]
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79 / 7739
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8
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(HPO:0000750)
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Delayed speech and language development |
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197 / 7739
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9
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(HPO:0001250)
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Seizures |
Very frequent [Orphanet]
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1245 / 7739
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10
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(HPO:0001315)
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Reduced tendon reflexes |
Very frequent [Orphanet]
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160 / 7739
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11
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(HPO:0001263)
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Global developmental delay |
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853 / 7739
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12
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(HPO:0009466)
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Radial deviation of finger |
Very frequent [Orphanet]
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101 / 7739
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13
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(HPO:0200055)
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Small hand |
Very frequent [Orphanet]
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71 / 7739
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14
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(HPO:0001511)
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Intrauterine growth retardation |
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358 / 7739
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15
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(HPO:0008897)
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Postnatal growth retardation |
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113 / 7739
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16
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(HPO:0000964)
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Eczema |
Very frequent [Orphanet]
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81 / 7739
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17
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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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18
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(HPO:0010547)
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Muscle flaccidity |
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466 / 7739
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19
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(HPO:0008947)
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Infantile muscular hypotonia |
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482 / 7739
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20
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(HPO:0001324)
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Muscle weakness |
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859 / 7739
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21
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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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22
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(OMIM)
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Small and widely spaced teeth |
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4 / 7739
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23
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(OMIM)
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Pre- and postnatal growth deficiency |
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1 / 7739
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24
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(OMIM)
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Eczematous skin |
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1 / 7739
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25
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(OMIM)
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Small and puffy hands and feet |
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1 / 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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27
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(HPO:0007370)
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Aplasia/Hypoplasia of the corpus callosum |
Very frequent [Orphanet]
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180 / 7739
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28
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(HPO:0001338)
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Partial agenesis of the corpus callosum |
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22 / 7739
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29
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |