penetrance 0003829 Intellectual disability, mild Mental retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation [ more ] 0001256 Percent
[rarediseases.info.nih.gov]
Transmission of MMs was consistent with an autosomal-dominant fashion with incomplete penetrance.
[movementdisorders.org]
[…] learning disability 0001328 1%-4% of people have these symptoms Cerebral palsy 0100021 Fused cervical vertebrae Fused neck 0002949 Hypogonadotrophic hypogonadism 0000044 Incomplete
[rarediseases.info.nih.gov]
A genomewide search, under the assumption of incomplete penetrance at 85% and a phenocopy rate of 5%, permitted identification of a new locus on chromosome 2q21-q33.
[ncbi.nlm.nih.gov]
GEFS+ is inherited in an autosomal dominant manner, although the condition is characterized by incomplete penetrance, with only 60% to 80% of patients known to carry a pathogenic
[crd.york.ac.uk]
Current genetic inheritance patterns proposed for the Class III malocclusion include autosomal-recessive, autosomaldominant, autosomal-dominant with incomplete penetrance,
[eurekaselect.com]
penetrance and variable expressivity.
[eurekaselect.com]
[…] explained by the presence of a dominant major gene with an autosomal Mendelian mode of transmission that is affected by other genes and environmental factors leading to incomplete
[eurekaselect.com]
This called incomplete penetrance.
[diabetes.medicclub.info]
But since the condition has incomplete penetrance and there is a range in severity of symptoms, it is difficult to predict how the mutation in the UFSP2 gene will affect a
[diabetes.medicclub.info]
penetrance and clinically challenging to diagnose.
[ncbi.nlm.nih.gov]
penetrance, and clinically challenging to diagnose.
[ncbi.nlm.nih.gov]
Due to the incomplete penetrance of HLRCC, the authors propose to extend the FH mutation analysis to every patient with PRCCII occurring before 40 years of age or when renal
[ncbi.nlm.nih.gov]
Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.Visit the Orphanet disease page
[malacards.org]
The pattern of inheritance was consistent with X-linked recessive inheritance; however, autosomal dominant inheritance with incomplete penetrance in females or multifactorial
[pediatrics.aappublications.org]
Genetic counseling Genetic counseling is difficult because HSCR is a polygenic disorder with incomplete penetrance and variable expressivity.
[orpha.net]
There is incomplete penetrance, with only approximately 50% of the males and 10% of the females carrying a pathogenic mtDNA mutation actually developing the optic neuropathy
[snpedia.com]
Many, if not most, cases with no family history are due to incomplete penetrance rather than new mutation [ 2 ].
[patient.info]
It is characterized by as yet undisclosed genetic and environmental factors affecting the incomplete penetrance.
[ncbi.nlm.nih.gov]
Leber hereditary optic neuropathy (LHON) is due primarily to one of three common point mutations of mitochondrial DNA (mtDNA), but the incomplete penetrance implicates additional
[ncbi.nlm.nih.gov]
Additional factors, such as mtDNA/nuclear genetic background and environmental modifiers, are likely to contribute toward the observed incomplete penetrance and gender bias
[ncbi.nlm.nih.gov]
The concealed cases fall under the heading of a more general phenomenon of incomplete penetrance of all genetic disorders of the ion channels, while standing for a difficult
[romanianjournalcardiology.ro]
For example, in LQTS a genetic mutation may exhibit incomplete penetrance.51 Similarly, certain mutations may have variable expressivity, conferring different risk of disease
[ahajournals.org]
Hereditary pancreatitis is characterized by an autosomal-dominant mode of inheritance with incomplete penetrance, onset of symptoms in childhood or early adolescence (mean
[ncbi.nlm.nih.gov]
Abstract Hereditary pancreatitis is an autosomal dominant disease with incomplete penetrance (80%), accounting for approximately 1% of all cases of pancreatitis.
[ncbi.nlm.nih.gov]
It is inherited as an autosomal dominant disease, with incomplete penetrance. The genetic defect is believed to be caused by mutations in the trypsinogen gene.
[ncbi.nlm.nih.gov]
Whether this incomplete penetrance is associated with one of the disease genes recently identified in EXT is currently under investigation.
[ncbi.nlm.nih.gov]
In addition, since previous studies have suggested that there are deviations from Mendelian expectations in EXT, including incomplete penetrance and a skewed sex ratio, we
[scholars.northwestern.edu]
In affected females in family 2, phenotypic variability and incomplete penetrance were noted.
[ncbi.nlm.nih.gov]
Branchio-oculo-facial syndrome (BOFS) is a very rare autosomal dominant disorder with incomplete penetrance and variable expression; with phenotypic variation ranging from
[ncbi.nlm.nih.gov]
Abstract Branchio-oculo-facial syndrome (BOFS) is a very rare autosomal dominant disorder with incomplete penetrance and variable expression; with phenotypic variation ranging
[doi.org]
Inheritance was consistent with an autosomal dominant pattern with incomplete penetrance and variable expressivity.
[bio2rdf.org]
A family history has been reported in a small percentage of cases with an autosomal dominant pattern of inheritance and incomplete penetrance.
[dysnet.org]
penetrant E Pardono, JF Mazzeu, K Lezirovitz, MT Auricchio, P Iughetti, ...
[scholar.google.pl]
penetrant genitourinary defects including incomplete Müllerian fusion in females and hypospadias in males.
[oxfordindex.oup.com]
The limb abnormalities are reported to be fully penetrant, bilateral, and symmetrical, whereas the genitourinary abnormalities are incompletely penetrant and variably severe
[link.springer.com]
Hand-foot-genital syndrome (HFGS), which is characterized by symmetric preaxial deficiency of the hands and feet, second and fifth finger clinodactyly, and frequent but incompletely
[oxfordindex.oup.com]
The syndrome appears to demonstrate an autosomal dominant inheritance pattern, with incomplete penetrance and variable expressivity.
[ncbi.nlm.nih.gov]
Genetic counseling MRKH syndrome was thought to be purely sporadic but familial cases seem to be inherited autosomal dominantly with incomplete penetrance and variable expressivity
[orpha.net]
The underlying factors of the incomplete penetrance are yet unknown [ 20 ].
[journals.plos.org]
Familial cases of PAH are usually recognized as an autosomal dominant disease, but incomplete penetrance of the disease makes it difficult to identify pathogenic variants
[bmcpulmmed.biomedcentral.com]
This is called incomplete penetrence.
[pulmonaryhypertensionrn.com]
It has incomplete penetrance and extreme phenotypic variability that leads to difficulty in diagnosis.
[ncbi.nlm.nih.gov]
The hereditary pattern appears to be an autosomal dominant trait with incomplete penetrance and variable expressivity.
[ncbi.nlm.nih.gov]
This syndrome is inherited as an autosomal dominant trait with incomplete penetrance and varying expression and consists of cleft lip and palate, lip pits, genital anomalies
[ncbi.nlm.nih.gov]
Incomplete penetrance is confirmed in her clinically unaffected mother, who carries the same dominant mutation.
[ncbi.nlm.nih.gov]
Rede de Informação e Conhecimento An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa
[pesquisa.bvsalud.org]
Late-onset EBP and incomplete penetrance may lead to delayed presentation in affected family members with the same variants.
[ncbi.nlm.nih.gov]
Incomplete penetrance and intrafamilial variability was detected in both families. Treatment with valproic acid and levetiracetam provided favorable response.
[ncbi.nlm.nih.gov]
penetrance and variable response to alcohol DYT-16 PRKRA 2q31.2 dystonia parkinsonism syndrome Autosomal Recessive Progressive, generalised, early-onset dystonia with axial
[cmdg.org]
Allowing incomplete penetrance in the mutation carriers, this mutation co-segregated completely with the phenotype.
[jmedicalcasereports.biomedcentral.com]
They exhibit an autosomal dominant pattern of inheritance with incomplete penetrance.
[dermnetnz.org]
The genetic transmission of polythelia appears to be heterogeneous and the most common modes are: autosomal dominant with incomplete penetrance and a dominant X-linked chromosome
[colombiamedica.univalle.edu.co]
However, the incomplete penetrance and genetic heterogeneity have been reported in this syndrome.
[ncbi.nlm.nih.gov]
But some mutations have incomplete penetrance. This means that some people who inherit a mutated copy of the gene do not develop disease.
[amyloidosis.org.uk]
penetrance in retinitis pigmentosa.
[aravindachakravartilab.org]
We undertook mutation screening in the PRPF31 gene that is well reported to be linked with ADRP with incomplete penetrance.
[ashg.org]
Disease penetrance correlates with population frequencies of MSR1 alleles To further investigate the role of MSR1 in the incomplete penetrance of PRPF31 -associated adRP,
[nature.com]
Two unaffected subjects (III:1 and III:11) carried the disease haplotype, suggesting an incomplete penetrance for the disease.
[doi.org]
[…] progression of proximal muscle weakness in both upper and lower limbs affecting several members of a four generations Italian AD pedigree presenting variable expressivity and incomplete
[telethon.it]
Three multigeneration families demonstrating the phenotype of hereditary lymphedema segregating as an autosomal dominant trait with incomplete penetrance were genotyped for
[ncbi.nlm.nih.gov]
This incomplete penetrance might appear as a “skipped generation” in some families.
[lymphnotes.com]
Hereditary lymphedema generally shows an autosomal dominant pattern of inheritance with reduced penetrance, variable expression and variable age at onset.
[ncbi.nlm.nih.gov]
Genetic counseling BFIE is transmitted as an autosomal dominant trait with incomplete penetrance.
[orpha.net]
penetrance and variable expressivity.
[orpha.net]
Incomplete penetrance means that some individuals who inherit the gene for a dominant disorder will not be affected by the disorder.
[rarediseases.org]
Genetic counseling MRKH syndrome (type 1 or type 2) was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete
[orpha.net]
Metachondromatosis is an autosomal dominant [1] incompletely penetrant [2] skeletal disorder affecting the growth of bones, leading to multiple enchondromas and osteochondromas
[ipfs.io]
Metachondromatosis is an autosomal dominant, [2] incompletely penetrant[3] skeletal disorder affecting the growth of bones, leading to multiple enchondromas and osteochondromas
[en.wikipedia.org]
Abstract Metachondromatosis (MC) is a rare, autosomal dominant, incompletely penetrant combined exostosis and enchondromatosis tumor syndrome.
[ncbi.nlm.nih.gov]
The familial form is inherited with an autosomal dominant pattern with incomplete penetrance. The prenatal form may be either autosomal dominant or recessive.
[posna.org]
There is evidence to suggest that the familial form is inherited in an autosomal dominant fashion with incomplete penetrance and variable expression 2,3.
[radiopaedia.org]
[…] the debate regarding how a state of acute bone and soft-tissue inflammation could be limited in time and space and yet be transmitted as an autosomal dominant trait with incomplete
[jci.org]
Lingua plicata can be a heredity condition, with some evidence suggesting that this condition represents a polygenic trait or an autosomal-dominant trait with incomplete penetrance
[idoj.in]
Incomplete penetrance in women with Arg672Cys mutation was evident.
[ncbi.nlm.nih.gov]
RESULTS: Two FPP families had the R528H point mutation, but with incomplete penetrance occurring more commonly in men than in women.
[ncbi.nlm.nih.gov]
Genetic counseling HypoPP is transmitted as an autosomal dominant disease with incomplete penetrance, especially in females.
[orpha.net]
