PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE
General Information (adopted from Orphanet):
| Synonyms, Signs: |
HETEROTOPIA, PERIVENTRICULAR, AUTOSOMAL RECESSIVE PERIVENTRICULAR NODULAR HETEROTOPIA 2 ARPHM PVNH2 |
| Number of Symptoms | 20 |
| OrphanetNr: | |
| OMIM Id: |
608097
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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: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
Infantile onset [Omim] |
Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000253) | Progressive microcephaly | 37 / 7739 | ||||
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(HPO:0000252) | Microcephaly | 832 / 7739 | ||||
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(HPO:0001263) | Global developmental delay | 12682315 | IBIS | 853 / 7739 | ||
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(HPO:0001250) | Seizures | 12682315 | IBIS | 1245 / 7739 | ||
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(HPO:0002521) | Hypsarrhythmia | 43 / 7739 | ||||
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(HPO:0010864) | Intellectual disability, severe | 120 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0002273) | Tetraparesis | 15 / 7739 | ||||
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(HPO:0000817) | Poor eye contact | 26 / 7739 | ||||
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(HPO:0001508) | Failure to thrive | rare [HPO:skoehler] | 454 / 7739 | |||
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(HPO:0001510) | Growth delay | 295 / 7739 | ||||
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(HPO:0008947) | Infantile muscular hypotonia | 482 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
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(HPO:0010547) | Muscle flaccidity | 466 / 7739 | ||||
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(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0007165) | Periventricular gray matter heterotopia | 12682315 | IBIS | 4 / 7739 | ||
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(HPO:0002079) | Hypoplasia of the corpus callosum | 161 / 7739 | ||||
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(OMIM) | Periventricular nodular heterotopia seen on MRI | 1 / 7739 | ||||
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(HPO:0003593) | Infantile onset | 249 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Sheen et al. (2003) described 2 consanguineous pedigrees with periventricular heterotopia suggesting an autosomal recessive inheritance pattern. Magnetic resonance imaging (MRI) of the brains of affected individuals revealed periventricular nodules of cerebral gray matter intensity, typical of the ... |
| Molecular genetics OMIM |
In affected members of 2 Turkish families with ARPHM, including 1 reported by Sheen et al. (2003), Sheen et al. (2004) identified homozygous mutations in the ARFGEF2 gene (605371.0001 and 605371.0002). In 5 members of a ... |