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MCID: PCH018
MIFTS: 17
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Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts
Categories:
Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Pachygyria with Mental Retardation, Seizures, and Arachnoid...
MalaCards integrated aliases for Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts:
Name: Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts
56
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
two families have been reported (as of may 2011) HPO:31
pachygyria with mental retardation, seizures, and arachnoid cysts:
Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Fetal diseases Rare diseases Anatomical: Neuronal diseases Mental diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases
Developmental anomalies during embryogenesis |
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OMIM :
56
This autosomal recessive neurodevelopmental disorder is characterized by pachygyria, mental retardation, seizures, and diffuse localization of arachnoid cysts. It most likely represents a neuronal migration disorder within the lissencephaly spectrum (summary by Guzel et al., 2007). (600176)
MalaCards based summary : Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts, also known as kuzniecky syndrome, is related to pachygyria-intellectual disability-epilepsy syndrome, and has symptoms including seizures Affiliated tissues include cortex, and related phenotypes are global developmental delay and intellectual disability |
Diseases related to Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts:58 31 (show all 11)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:600176UMLS symptoms related to Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts:seizures |
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MalaCards organs/tissues related to Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts:40
Cortex
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Articles related to Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts:
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Search
GEO
for disease gene expression data for Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts.
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