BTOP
MCID: PLY110
MIFTS: 25
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Polymicrogyria, Bilateral Temporooccipital (BTOP)
Categories:
Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Polymicrogyria, Bilateral Temporooccipital:
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
variable severity one family has been reported (last curated september 2014) variable age at onset, first to second decades HPO:31
polymicrogyria, bilateral temporooccipital:
Inheritance autosomal recessive inheritance Onset and clinical course variable expressivity Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases
ICD10:
33
Orphanet: 58
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UniProtKB/Swiss-Prot :
73
Polymicrogyria, bilateral temporooccipital: A disease characterized by temporo-occipital polymicrogyria, psychiatric manifestations, and epilepsy.
MalaCards based summary : Polymicrogyria, Bilateral Temporooccipital, also known as btop, is related to bilateral parasagittal parieto-occipital polymicrogyria, and has symptoms including seizures and hallucinations, visual. An important gene associated with Polymicrogyria, Bilateral Temporooccipital is FIG4 (FIG4 Phosphoinositide 5-Phosphatase). Affiliated tissues include brain, and related phenotypes are ventriculomegaly and polymicrogyria
More information from OMIM:
612691
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Diseases related to Polymicrogyria, Bilateral Temporooccipital via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Polymicrogyria, Bilateral Temporooccipital:31 (show all 7)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:612691UMLS symptoms related to Polymicrogyria, Bilateral Temporooccipital:seizures, hallucinations, visual |
Interventional clinical trials:
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MalaCards organs/tissues related to Polymicrogyria, Bilateral Temporooccipital:40
Brain
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Articles related to Polymicrogyria, Bilateral Temporooccipital:
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ClinVar genetic disease variations for Polymicrogyria, Bilateral Temporooccipital:6
UniProtKB/Swiss-Prot genetic disease variations for Polymicrogyria, Bilateral Temporooccipital:73
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Search
GEO
for disease gene expression data for Polymicrogyria, Bilateral Temporooccipital.
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