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Seckel Syndrome (SCKL)
Alias:
Microcephalic Primordial Dwarfism
|
Virchow-Seckel Dwarfism
|
Bird-Headed Dwarfism
|
Harper's Syndrome
|
Nanocephalic Dwarfism
|
Seckel-Type Dwarfism
|
Sckl
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Seckel syndrome is a rare genetic disorder characterized by growth retardation, severe microcephaly, and intellectual disability. It presents with unique facial features such as a bird-like face, large eyes, beak-like nose, narrow face, and receding lower jaw. Inheritance is autosomal recessive, and some individuals may also have blood abnormalities. Seckel syndrome is a form of microcephalic primordial dwarfism, resulting in a smaller body size from prenatal onset. Individuals with this syndrome exhibit intrauterine growth restriction and postnatal dwarfism, with a distinct facial appearance and intellectual disability.
Related ID:
MALACARDS: SCK004
|
ICD11: 691657602
Basic Information
Inheritance
Age of Onset
Prevalence
Related Genes
Related Mouse Models
Reference
MALACARDS
AR
Autosomal recessive
Unknown
<1/1000000
Point prevalence:
<1/1000000 (Worldwide)
Prevalence at birth:
1-9/1000000 (Europe)
1227
8668
0
SCK004
Medical Symptom
Phenotype Information Associated with the Current Disease:
Categorization: Anatomical classification of the disease manifestations.
HPO Frequency/Orphanet Frequency: Indicates the probability of the manifestation occurring in the current disease, allowing sorting by probability.
HPO Source Accession: Links to HPO for detailed manifestation information.
Data Source: HPO, Orphanet
Gene & Mutation
Genes and Mutations Associated with the Current Disease:
Function: Primary biological roles of the genes.
Score: Indicates the strength of the association between the disease and the gene, with higher scores reflecting stronger associations.
Count: Number of mutations associated with the disease-gene pair. The number in parentheses represents the total data points linked to the same ClinVar ID. Clicking the number reveals mutation details.
Data Source: Clinvar
Related Drugs
Drugs Related to the Current Gene, Displaying CAS Number, Status and Phase.
Data Source: Clinical Trials
Related Mouse Models
Mouse Models Related to the Current Gene. Click on the model name to view detailed information.
Data Source: MGI, Cyagen
References Literature
Most Relevant Literature for the Current Gene, Filterable by Year, Article Type, and Sortable by Impact Factor.
Data Source: UniProt, PubMed
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