Intellectual deficit - spasticity - ectrodactyly
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Jancar syndrome
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Number of Symptoms
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14
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OrphanetNr:
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1891
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OMIM Id:
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246555
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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
[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:0001347)
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Hyperreflexia |
Frequent [Orphanet]
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363 / 7739
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2
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(HPO:0001249)
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Intellectual disability |
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1089 / 7739
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3
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(HPO:0001276)
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Hypertonia |
Very frequent [Orphanet]
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317 / 7739
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4
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(HPO:0004374)
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Hemiplegia/hemiparesis |
Frequent [Orphanet]
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158 / 7739
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5
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(HPO:0001258)
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Spastic paraplegia |
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97 / 7739
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6
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(HPO:0001385)
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Hip dysplasia |
Frequent [Orphanet]
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242 / 7739
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7
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(HPO:0100257)
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Ectrodactyly |
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27 / 7739
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8
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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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9
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(HPO:0000954)
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Single transverse palmar crease |
Frequent [Orphanet]
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162 / 7739
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10
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(HPO:0006101)
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Finger syndactyly |
Frequent [Orphanet]
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198 / 7739
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11
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(HPO:0001171)
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Split hand |
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72 / 7739
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12
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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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13
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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14
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(HPO:0040065)
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Abnormal morphology of bones of the upper limbs |
Frequent [Orphanet]
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25 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |