Spastic paraplegia 64, autosomal recessive
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 21 |
| OrphanetNr: | |
| OMIM Id: |
615683
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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:
| Prevalence: | 4 cases - PMID: 30652007 [IBIS] |
| Inheritance: |
Autosomal recessive - PMID: 24482476 [IBIS] |
| Age of onset: |
Childhood - PMID: 24482476 [IBIS] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
AARSKOG SYNDROME, AUTOSOMAL DOMINANT
-AARSKOG SYNDROME, AUTOSOMAL DOMINANT |
Symptom Information:
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(HPO:0000519) | Congenital cataract | rare [HPO:skoehler] | 24482476 | IBIS | 73 / 7739 | |
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(HPO:0001611) | Nasal speech | 30652007 | IBIS | 48 / 7739 | ||
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(HPO:0010831) | Impaired proprioception | 30652007 | IBIS | 7 / 7739 | ||
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(HPO:0002495) | Impaired vibratory sensation | 30652007 | IBIS | 26 / 7739 | ||
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(HPO:0003487) | Babinski sign | 30652007 | IBIS | 179 / 7739 | ||
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(HPO:0006801) | Hyperactive deep tendon reflexes | 24482476 | IBIS | 21 / 7739 | ||
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(HPO:0002061) | Lower limb spasticity | 30652007 | IBIS | 56 / 7739 | ||
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(HPO:0001258) | Spastic paraplegia | 4/4 [HPO:probinson] | 24482476 | IBIS | 97 / 7739 | |
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(HPO:0000718) | Aggressive behavior | 24482476; 30652007 | IBIS | 109 / 7739 | ||
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(HPO:0001260) | Dysarthria | 24482476; 30652007 | IBIS | 329 / 7739 | ||
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(HPO:0001249) | Intellectual disability | 24482476; 30652007 | IBIS | 1089 / 7739 | ||
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(HPO:0001288) | Gait disturbance | 24482476 | IBIS | 318 / 7739 | ||
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(HPO:0002136) | Broad-based gait | 30652007 | IBIS | 30 / 7739 | ||
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(HPO:0002317) | Unsteady gait | 30652007 | IBIS | 45 / 7739 | ||
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(HPO:0001315) | Reduced tendon reflexes | 30652007 | IBIS | 160 / 7739 | ||
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(HPO:0001762) | Talipes equinovarus | rare [HPO:skoehler] | 24482476 | IBIS | 309 / 7739 | |
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(HPO:0000252) | Microcephaly | 2/4 [HPO:probinson] | 24482476 | IBIS | 832 / 7739 | |
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(HPO:0000823) | Delayed puberty | 24482476 | IBIS | 65 / 7739 | ||
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(HPO:0002500) | Abnormality of the cerebral white matter | 2/2 [HPO:probinson] | 24482476 | IBIS | 73 / 7739 | |
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(HPO:0040078) | Axonal degeneration | 24482476 | IBIS | 10 / 7739 | ||
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(HPO:0030051) | Tip-toe gait | 30652007 | IBIS | 10 / 7739 |
Associated genes:
| ENTPD1; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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