Severe intellectual deficit and progressive spastic paraplegia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
AP4 deficiency syndrome |
| Number of Symptoms | 29 |
| OrphanetNr: | 280763 |
| OMIM Id: |
612936
613744 614066 614067 |
| 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: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal recessive complex spastic paraplegia
-Rare genetic disease -Rare neurologic disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease |
Symptom Information:
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(HPO:0000322) | Short philtrum | 130 / 7739 | ||||
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(HPO:0002307) | Drooling | 43 / 7739 | ||||
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(HPO:0000154) | Wide mouth | 137 / 7739 | ||||
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(HPO:0000280) | Coarse facial features | 189 / 7739 | ||||
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(HPO:0000218) | High palate | 356 / 7739 | ||||
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(HPO:0000341) | Narrow forehead | 96 / 7739 | ||||
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(HPO:0000252) | Microcephaly | 832 / 7739 | ||||
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(HPO:0000303) | Mandibular prognathia | 179 / 7739 | ||||
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(HPO:0000414) | Bulbous nose | 63 / 7739 | ||||
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(HPO:0000486) | Strabismus | 576 / 7739 | ||||
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(HPO:0003487) | Babinski sign | 179 / 7739 | ||||
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(HPO:0001258) | Spastic paraplegia | 97 / 7739 | ||||
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(HPO:0002510) | Spastic tetraplegia | 54 / 7739 | ||||
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(HPO:0010864) | Intellectual disability, severe | 120 / 7739 | ||||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0100021) | Cerebral palsy | 36 / 7739 | ||||
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(HPO:0002200) | Pseudobulbar signs | 15 / 7739 | ||||
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(HPO:0006887) | Intellectual disability, progressive | 68 / 7739 | ||||
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(HPO:0001347) | Hyperreflexia | 363 / 7739 | ||||
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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
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(HPO:0001762) | Talipes equinovarus | 309 / 7739 | ||||
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(HPO:0001181) | Adducted thumb | 31 / 7739 | ||||
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(HPO:0001319) | Neonatal hypotonia | 101 / 7739 | ||||
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(HPO:0001272) | Cerebellar atrophy | 197 / 7739 | ||||
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(HPO:0002079) | Hypoplasia of the corpus callosum | 161 / 7739 | ||||
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(HPO:0002119) | Ventriculomegaly | 253 / 7739 | ||||
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(HPO:0003577) | Congenital onset | 133 / 7739 | ||||
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(HPO:0002171) | Gliosis | 48 / 7739 | ||||
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(HPO:0012811) | Wide nasal ridge | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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