MCID: CHR226
MIFTS: 31
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Chromosome 1q41-Q42 Deletion Syndrome
Categories:
Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Chromosome 1q41-Q42 Deletion Syndrome:
Characteristics:Orphanet epidemiological data:58
1q41q42 microdeletion syndrome
Inheritance: Not applicable; Age of onset: Infancy,Neonatal; OMIM:56
Inheritance:
isolated cases
Miscellaneous:
highly variable phenotype contiguous gene deletion syndrome midline defects HPO:31Classifications:
ICD10:
32
33
Orphanet: 58
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NIH Rare Diseases :
52
Chromosome 1q41-q42 deletion syndrome is characterized by a small, but variable deletion in a particular place on the long arm of one copy of chromosome 1 , usually spanning several genes . There have been variable features described in the literature, and individuals have ranged from being mildly to severely affected. Features may include poor feeding in infancy; developmental delay including delayed or absent speech; and moderate to severe intellectual disability . Other features may include hypotonia ; short stature ; seizures ; heart defects ; structural brain anomalies (most commonly underdevelopment of the corpus callosum ); genitourinary abnormalities ; cleft palate ; microcephaly ; vision problems; hearing loss ; and other abnormalities. Some may have characteristic facial features. Researchers have suggested the features are caused by disruption of at least four genes.
MalaCards based summary : Chromosome 1q41-Q42 Deletion Syndrome, also known as 1q41-q42 microdeletion syndrome, is related to wdr26-related intellectual disability and cleft palate, isolated, and has symptoms including seizures An important gene associated with Chromosome 1q41-Q42 Deletion Syndrome is DEL1Q41Q42 (Chromosome 1q41-Q42 Deletion Syndrome). Affiliated tissues include brain, heart and eye, and related phenotypes are intellectual disability and neonatal hypotonia Disease Ontology : 12 A chromosomal deletion syndrome that has material basis in deletion of the chromosome 1q41-q42 region. |
Diseases related to Chromosome 1q41-Q42 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:(show all 14)
Graphical network of the top 20 diseases related to Chromosome 1q41-Q42 Deletion Syndrome:![]() |
Human phenotypes related to Chromosome 1q41-Q42 Deletion Syndrome:58 31 (show all 40)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:612530UMLS symptoms related to Chromosome 1q41-Q42 Deletion Syndrome:seizures |
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Genetic tests related to Chromosome 1q41-Q42 Deletion Syndrome:
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MalaCards organs/tissues related to Chromosome 1q41-Q42 Deletion Syndrome:40
Brain,
Heart,
Eye,
Lung,
Skin,
Neutrophil
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Articles related to Chromosome 1q41-Q42 Deletion Syndrome:(show all 12)
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Search
GEO
for disease gene expression data for Chromosome 1q41-Q42 Deletion Syndrome.
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