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MSD microcephaly with spastic diplegia (Paine syndrome) [ Homo sapiens (human) ]

Gene ID: 4434, updated on 31-Aug-2024

Summary

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Official Symbol
MSDprovided by HGNC
Official Full Name
microcephaly with spastic diplegia (Paine syndrome)provided by HGNC
Primary source
MIM:311400
Gene type
unknown
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo

Genomic context

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Location:
chromosome: X

Bibliography

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Related articles in PubMed

  1. Evaluation of familial biochemically determined mental retardation in children, with special reference to aminoaciduria. PAINE RS. N Engl J Med, 1960 Mar 31. PMID 14429829
  2. X-chromosomal recessive microcephaly with epilepsy, spastic tetraplegia and absent abdominal reflexes. New variety of "Paine syndrome"? Seemanová E, et al. Humangenetik, 1973. PMID 4274173

GeneRIFs: Gene References Into Functions

Phenotypes

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Associated conditions

Description Tests
microcephaly with spastic diplegia (Paine syndrome)
OMIM: 311400GeneReviews: Not available

General gene information

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Property

  • phenotype only

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