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PAMDDFS
MCID: PCH022
MIFTS: 18
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Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic Facies, with or Without Seizures (PAMDDFS)
Categories:
Genetic diseases, Neuronal diseases
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Aliases & Classifications for Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic...
MalaCards integrated aliases for Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic Facies, with or Without Seizures:
Name: Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic Facies, with or Without Seizures
56
73
6
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy variable severity early death may occur five patients from 4 unrelated families have been reported (last curated january 2020) HPO:31
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures:
Inheritance autosomal recessive inheritance Onset and clinical course infantile onset Classifications: |
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OMIM :
56
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures (PAMDDFS) is an autosomal recessive neurologic disorder characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development. Brain imaging shows variable malformation of cortical development on the lissencephaly spectrum, mainly pachygyria and thin corpus callosum (summary by Mitani et al., 2019). (618737)
MalaCards based summary : Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic Facies, with or Without Seizures, is also known as pamddfs. An important gene associated with Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic Facies, with or Without Seizures is TUBGCP2 (Tubulin Gamma Complex Associated Protein 2). Affiliated tissues include brain, and related phenotypes are smooth philtrum and thick eyebrow UniProtKB/Swiss-Prot : 73 Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures: An autosomal recessive disorder characterized by global developmental delay, variably impaired intellectual development, speech delay, facial dysmorphism, microcephaly, and varying degrees of cortical malformations including pachygyria, thin corpus callosum and subcortical band heterotopia. Most patients have generalized seizures. |
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Human phenotypes related to Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic Facies, with or Without Seizures:31 (showing 23, show less)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618737 |
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MalaCards organs/tissues related to Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic Facies, with or Without Seizures:40
Brain
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Articles related to Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic Facies, with or Without Seizures:(showing 1, show less)
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Genes related to Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic Facies, with or Without Seizures (1 elite genes):(showing 1, show less) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic Facies, with or Without Seizures:6 (showing 4, show less)
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Search
GEO
for disease gene expression data for Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic Facies, with or Without Seizures.
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