Omim genetic condition autosomal dominant inheritance patterns. Medical search. Frequent questions

Gardner syndrome is inherited in an autosomal dominant manner. (wikipedia.org)
Nager acrofacial dysostosis is inherited in an autosomal dominant manner. (mdwiki.org)
Familial hypertriglyceridemia is considered to be inherited in an autosomal dominant manner. (mdwiki.org)

The phenotypes observed are consistent with those in the previous reports, and the observed mutation types and distribution further confirm distinct patterns for variants in NRL causing recessive and dominant diseases. (molvis.org)
Some clinically indistinguishable cases do not carry this mutation [ 11 ], so underlying genetic diversity is apparent, and the nomenclature to describe these conditions will likely continue to evolve. (biomedcentral.com)
Li B, Chen S, Sun K, Xu R, Wu Y. Genetic analyses identified a SALL4 gene mutation associated with Holt-Oram syndrome. (medscape.com)
However, some of these cases are caused by a new mutation in one of the previously mentioned genes or by the inheritance of a mutation from unaffected parents. (blogspot.com)
In summary, these results demonstrate ZNF513 + KIF3C as an important genetic combination in HGF manifestation and suggest that ZNF513 mutation may be a major risk factor for HGF. (nature.com)
[1] The condition may be inherited as an autosomal dominant condition or occur as a new mutation. (handwiki.org)
Inheritance Chong-Hai and Rajagopalan (1977) suggested autosomal recessive inheritance of pachyonychia congenita in a 4-year-old Malaysian girl with first-cousin parents, although they recognized new dominant mutation as a possibility. (findzebra.com)
Mutation inheritance pattern with paternal age adjusted to age difference between parents. (medscape.org)
Dominant negative mutations (where mutation on one copy renders the other copy inactive) are involved in osteogenesis imperfecta type I and autosomal dominant nephrogenic diabetes insidipus . (dorak.info)
Beyond the classic understanding of single-gene mutation leading to disease, hypertriglyceridemia is also linked to several different genetic loci permitting additional aberrant changes to other lipid levels in the body. (mdwiki.org)
Genetic and acquired hypercoagulable states, such as factor V Leiden deficiency, prothrombin G20210A mutation, and antiphospholipid syndrome, are associated with cerebrovascular events, including cerebral venous thrombosis and ischemic stroke. (medlink.com)

When the condition is caused by RASA1 gene mutations, affected individuals usually have multiple capillary malformations. (medlineplus.gov)
To describe the clinical phenotype and genetic basis of non-syndromic retinitis pigmentosa (RP) in one family and two sporadic cases with biallelic mutations in the transcription factor neural retina leucine zipper ( NRL) . (molvis.org)
NRL mutations predominantly cause dominant retinal disease, but there have been five published reports of mutations causing recessive disease. (molvis.org)
To date, mutations in 93 genes have been shown to cause the condition ( RetNet ). (molvis.org)
VHL gene mutations follow an autosomal dominant inheritance pattern. (bajaprogofficial.com)
VHL syndrome is distinct from most other autosomal dominant conditions because there should be two gene mutations present in order for tumors to begin forming, leading the presentation of the syndrome. (bajaprogofficial.com)
Genetic studies - family history may be falsely negative due to the variable expression of mutations. (cmt.org.uk)
Whether sporadic or inherited, when Peters anomaly is caused by mutations in the CYP1B1 gene, it follows an autosomal recessive pattern of inheritance. (blogspot.com)
A number of genetic mutations can result in Noonan syndrome. (handwiki.org)
The conditions are caused by genetic mutations of several different genes including, VPS13A , XK , JPH3 and PANK2 . (wikidoc.org)
The mutations are inherited through various genetic mechanisms. (wikidoc.org)
These syndromes are caused by different genetic mutations, but the signs and symptoms are usually similar, leading to the unified classification as forms of neuroacanthocytosis. (wikidoc.org)
Each of us inherits hundreds of genetic mutations from our parents, as they did from their forebears. (dorak.info)
Recessively inherited deletions/duplications and point mutations in the parkin gene are the most common cause of early-onset parkinsonism known so far, but in an increasing number of studies, genetic variations in the serine/threonine kinase domain of the PINK1 gene are found to explain early-onset parkinsonism. (biomedcentral.com)
Patients with autosomal dominant familial TAAD without mutations in ACTA2 . (preventiongenetics.com)
Mutations in at least 10 genes, including MYLK, have been found to be associated with autosomal dominant TAAD or related disorders (Wang et al. (preventiongenetics.com)

Some vascular abnormalities seen in Parkes Weber syndrome are similar to those that occur in a condition called capillary malformation-arteriovenous malformation syndrome (CM-AVM). (medlineplus.gov)
CM-AVM and some cases of Parkes Weber syndrome have the same genetic cause. (medlineplus.gov)
Most cases of Parkes Weber syndrome occur in people with no history of the condition in their family. (medlineplus.gov)
Hanhart syndrome is a broadly classified medical condition consisting of congenital disorders that cause an undeveloped tongue and malformed extremities and fingers. (wikipedia.org)
There exist five types of Hanhart syndrome, with the severity and nature of the condition ranging widely on a case-by-case basis. (wikipedia.org)
Hanhart syndrome is part of the larger oromandibular-limb hypogenesis syndrome (OLHS) family of conditions, which are collectively characterized by the underdevelopment of the mouth, jaw, tongue, and extremities. (wikipedia.org)
Hanhart syndrome is classified by five types, denoting the symptoms and severity of the condition. (wikipedia.org)
The causes of Hanhart syndrome and other OLHS conditions is unknown, but both genetic and environment factors have been proposed. (wikipedia.org)
1] On the European continent, a more common name for this condition is Franceschetti-Zwahlen-Klein syndrome, based on extensive studies of mandibulofacial dysostosis published by the Swiss ophthalmologist Franceschetti and the geneticist Klein (1949). (medscape.com)
Gardner syndrome is an autosomal dominant form of polyposis characterized by the presence of multiple polyps in the colon together with tumors outside the colon. (wikipedia.org)
[8] There are many terms used to describe "APC-associated polyposis condition" including FAP, attenuated FAP, Gardner syndrome, Turcot syndrome, and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). (wikipedia.org)
Gardner syndrome has an autosomal dominant pattern of inheritance. (wikipedia.org)
KLF13 is a genetic modifier of the Holt-Oram syndrome gene TBX5. (medscape.com)
Other authors are more restrictive in their definition, as a means of preventing the term Möbius syndrome from being assigned to conditions of a different pathogenesis. (medscape.com)
A congenital condition called the Poland sequence, characterized by ipsilateral hand malformations and by partial or complete absence of the pectoralis muscles and breast, is concurrent with Möbius syndrome in approximately 15% of patients. (medscape.com)
Holt-Oram syndrome (HOS) (OMIM 142900) is a heart-upper limb malformation complex with an autosomal dominant inheritance and near-complete penetrance but variable expression. (medscape.com)
In consequence, there is an enrichment of 36 specific Mendelian genetic diseases such as congenital nephrotic syndrome, Finnish type (CNF) 8 in certain areas of Finland today that show mostly recessive inheritance. (nature.com)
Noonan syndrome ( NS ) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. (handwiki.org)
Diagnosis is often based on symptoms and confirmed by genetic testing or skin biopsy , [4] but people may initially be misdiagnosed with hypochondriasis , depression , or chronic fatigue syndrome . (wikipedia.org)
A survey study with assessment of esophageal screening and genetic counseling in patients with Howel-Evans syndrome. (nih.gov)
Kjellin syndrome is characterized by retinal degeneration, autosomal recessive hereditary spastic paraplegia, and thin corpus callosum initially associated with spastic paraplegia 15 (SPG15) but more often occurring in individuals with SPG11. (nih.gov)
Wiedemann-Rautenstrauch syndrome (WDRTS) is a rare autosomal recessive neonatal progeroid disorder characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment (summary by Toriello, 1990). (beds.ac.uk)
Aarskog syndrome is a rare genetic condition characterized by short stature and multiple facial, limb and genital abnormalities. (web.app)
Faciogenital dysplasia, also known as aarskog scott syndrome aas, is an xlinked dominant congenital disorder characterized by multiple facial, musculoskeletal, dental, neurological and. (web.app)
This condition mainly affects males, although females may have mild features of the syndrome. (web.app)
Faciogenital dysplasia, also known as aarskogscott syndrome aas, is an xlinked dominant. (web.app)
Kartagener syndrome is a rare, ciliopathic, autosomal recessive genetic disorder that causes a defect in the action of the cilia lining the respiratory tract and fallopian tube. (web.app)
Nephrotic syndrome is an important clinical condition affecting both children and adults. (web.app)
For example, loss of function of the microglial gene Trem2 renders microglia dysfunctional and causes an early-onset neurodegenerative syndrome, and Trem2 variants are among the strongest genetic risk factors for AD. (stanford.edu)
In Cri-Du-Chat syndrome (5p deletion), the genetic basis of the phenotype is haploinsufficiency for the telomerase reverse transcriptase gene ( TERT ), which is included in the deleted part of chromosome 5. (dorak.info)
Familial TAAD is diagnosed based on the presence of dilatation and/or dissection of the thoracic aorta using imaging studies (MRI, echocardiography, CT), the absence of syndromic conditions that have clinical features the overlap with familial TAAD, such as Marfan syndrome, Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome, and a positive family history. (preventiongenetics.com)
In recent years, variants of COL4A1 have been observed in a spectrum of brain malformations, such as autosomal dominant porencephaly, schizencephaly, intracranial calcifications, small vessel disease causing strokes and cerebral hemorrhages, and hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC syndrome). (cusabio.com)
In this update, the author discusses advancements in the epidemiology, diagnosis, treatment, and prognosis of patients with arterial ischemic stroke and cerebral venous thrombosis associated with genetic and acquired thrombophilia, including the antiphospholipid antibody syndrome. (medlink.com)

This genetic disorder usually follows an autosomal dominant inheritance pattern . (mdwiki.org)

For common genetic variants, early genome-wide association studies (GWASs) found that additive models captured most genotype-phenotype associations, including those with non-additive (also called dominance) effects 17 . (nature.com)
Gene(s) directly associated with this condition or phenotype. (nih.gov)
Both variants co-segregated with the AOMS3 phenotype in classic dominant autosomal inheritance with full penetrance. (biomedcentral.com)
Deciding on the genetic tests to order can be simplified by narrowing the differential diagnosis and defining the patient's phenotype. (medlink.com)

A negative test result does not rule out a genetic cause of sensorineural hearing loss as there are many other genes associated with this trait. (nemours.org)
16 Among these loci, "son of sevenless homologue 1" ( SOS1 , OMIM 182530) and "RE1 silencing transcription factor" ( REST , OMIM 600571), which are HGF-related pathogenic genes, have been identified as associated with GINGF1 and GINGF5, respectively. (nature.com)

Recent studies offer new insights into the pathogenesis and treatment of this condition, which have relevance not only to these patients, but to those with classic forms of hereditary angioedema as well. (biomedcentral.com)

entry 154500 in the Online Mendelian Inheritance in Man [OMIM] classification system), is an inherited developmental disorder with a prevalence estimated to range between 1 in 40,000 to 1 in 70,000 of live births. (medscape.com)
We use these results to find many known Mendelian variants whose inheritance cannot be adequately described by a conventional definition of dominant or recessive. (nature.com)
However, it is important to recognize that most cases have a polygenic inheritance distancing themselves from traditional Mendelian inheritance patterns. (mdwiki.org)

[1] Some cases result from a new variation occurring during early development, while others are inherited in an autosomal dominant or recessive manner. (wikipedia.org)
SPG11 is inherited in an autosomal recessive manner. (nih.gov)

Autosomal dominant leukodystrophy with autonomic disease (ADLD) is one of a group of genetic disorders called leukodystrophies. (medlineplus.gov)
more recently, Crohn disease‒associated genetic loci have been identified. (medscape.com)
Identifying variants that influence disease risk only in the homozygous state (recessive inheritance) is particularly challenging, as the square of variant frequencies means that the homozygous state is often exceedingly rare. (nature.com)
A group of symptoms that collectively indicate or characterize a disease, disorder, or other condition considered abnormal. (web.app)
Follow-up integration of daSNV gene editing with clinical cohort analyses suggested that magnesium transport dysfunction may increase neuropsychiatric disease risk and indicated that common genetic pathomechanisms may mediate specific symptoms that are shared across multiple neuropsychiatric diseases. (stanford.edu)
The differential diagnosis for the patient may include both genetic and non-genetic possibilities (for example, ataxia, dementia, and Parkinson disease). (medlink.com)
Both substitutions segregated with disease in agreement with a recessive pattern of inheritance within respective families and both were present as homozygous in two affected each. (biomedcentral.com)
It is appropriate to evaluate the genetic status of apparently asymptomatic female relatives (even in the absence of oral, facial, and digital anomalies) to determine if they are at risk for renal disease. (nih.gov)
or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. (lookformedical.com)
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. (lookformedical.com)
Lhermitte-Duclos disease (LDD), also known system, it is a grade I mixed glioneuronal as dysplastic gangliocytoma of the cere- tumor.2 It usually occurs in patients between bellum, is a rare condition first described by 30 and 50 years of age, both sexes. (bvsalud.org)

RP is genetically heterogeneous, with autosomal dominant, autosomal recessive and X-linked patterns of inheritance. (molvis.org)

Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance. (lookformedical.com)

Nuances in the understanding of genetics have caused some disorders to be split into multiple entities, while others merged into one genetic condition. (wikipedia.org)
This condition is one of a group of disorders known as congenital corneal opacities, which affect 3 to 6 individuals per 100,000. (blogspot.com)
In rare cases, the condition (or related eye disorders) has been reported to occur in multiple members of the same family. (blogspot.com)
Ehlers-Danlos syndromes ( EDS ) are a group of 13 genetic connective-tissue disorders in the current classification, [7] with the latest type discovered in 2018. (wikipedia.org)
Neuroacanthocytosis is a group of genetically diverse conditions complicated by movement disorders , neurological problems and spiculated (misshapen) red blood cells. (wikidoc.org)
Genetic disorders affecting the nervous system typically present first to the general neurologist at any point in the patient's lifespan. (medlink.com)
Indeed, the precedent for treatment of neurogenetic disorders with metabolic defects began before clinical genetic tests became available. (medlink.com)
The term "hypercoagulable state" is defined as a prothrombotic condition resulting from any specific disorders of blood coagulation. (medlink.com)
A number of genetic, metabolic, and neurologic disorders are associated with recognizable scalp hair abnormalities. (medscape.com)
Clinical inspection of scalp hair characteristics can provide important clues to aid the early identification of genetic, metabolic, and neurologic disorders. (medscape.com)
[ 1 3 ] A number of autosomal dominant, autosomal recessive, and X-linked single gene disorders are characterized by hair abnormalities. (medscape.com)

Hereditary gingival fibromatosis (HGF) is a rare inherited condition with fibromatoid hyperplasia of the gingival tissue that exhibits great genetic heterogeneity. (nature.com)
A cardiomelic developmental field has also been postulated to relate the genetic heterogeneity of HOS (and other similar syndromes) to a cascade of molecules, including the brachyury, sonic hedgehog, bone morphogenetic protein, retinoic acid receptor, and transforming growth factor beta families. (medscape.com)
1994). For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (144200). (nih.gov)
2011). For a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. (findzebra.com)

Ectodermal dysplasia (ED) includes a large and heterogeneous group of rare congenital conditions with structural and functional abnormalities in various tissues originating from the ectodermal layer of the developing embryo. (biomedcentral.com)

People with ADLD develop signs and symptoms of the condition in adulthood, typically in their forties or fifties. (medlineplus.gov)
Management of this condition is lengthy and requires a multidisciplinary approach focused on treatment of symptoms. (medscape.com)
Conditions linked to CMT with comparable symptoms include: HNPP - Hereditary Neuropathy with Liability to Pressure Palsies, GAN - Giant Axonal Neuropathy. (cmt.org.uk)

In particular, we find variants that are known to cause diseases with recessive inheritance with significant heterozygous phenotypic effects. (nature.com)
Despite recognition that heterozygous carriers in JEB families can have AI, and that heterozygous COL17A1 variants also cause dominant corneal epithelial recurrent erosion dystrophy (ERED), the importance of heterozygous COL17A1 variants causing dominant non-syndromic AI is not widely recognised. (bmj.com)
Increased availability of genetic testing means that more individuals will receive reports of heterozygous COL17A1 variants. (bmj.com)
Exon dosage analysis confirmed the recessive pattern of inheritance with heterozygous deletions segregating in healthy family members. (biomedcentral.com)
The diagnosis of OFD1 is established in a female proband with suggestive findings and a heterozygous OFD1 pathogenic variant identified by molecular genetic testing . (nih.gov)

Autosomal dominant inheritance is the most common mode of inheritance but autosomal recessive, and CMT X-linked (CMTX) forms have also been identified. (cmt.org.uk)
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. (nih.gov)

The mouth is frequently involved in conditions that affect the skin, but it is also affected by many systemic diseases. (medscape.com)
This article is intended as a general overview of conditions with oral manifestations of systemic diseases. (medscape.com)
Many of these conditions have excellent full-length Medscape Drugs & Diseases articles, which are linked herein. (medscape.com)
By contrast, in populations that have encountered a recent reduction in population size, certain founder diseases with recessive inheritance are present at higher frequencies. (nature.com)
This leads to higher rates of homozygosity, and increases the chance occurrence of pathogenic variants in a homozygous state that lead to diseases with recessive inheritance. (nature.com)
Genetic and Rare Diseases Information Center (GARD ) of National Center for Advancing Translational Sciences (NCATS), USA. (symptoma.com)
Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 toll free. (web.app)
Severe chronic neutropenia (SCN) is a rare blood disorder characterized by abnormally low levels of certain white blood cells (neutrophils) in the bloodstream (neutropenia) not explained by medication use, infections or another underlying health condition like blood cancers or systemic autoimmune diseases associated with neutropenia. (rarediseases.org)
The subgroup's GENE POOL carries only a fraction of the genetic diversity of the parental population resulting in an increased frequency of certain diseases in the subgroup, especially those diseases known to be autosomal recessive. (lookformedical.com)

Familial hypertriglyceridemia (type IV familial dyslipidemia) is a genetic disorder characterized by the liver overproducing very-low-density lipoproteins (VLDL). (mdwiki.org)

The close relationship embryologically between the motor nuclei of the sixth and seventh CNs explains the pathology of this congenital condition. (medscape.com)
The condition accounts for almost all congenital retinoschisis. (institut-vision.org)
This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity with familial occurrence (summary by Levinsohn et al. (beds.ac.uk)
Older children with DGS may be detected through clinics for congenital heart defects or craniofacial clinics, may be referred to developmental specialists for poor school performance, or may be diagnosed due to frequent infections or autoimmune conditions. (medilib.ir)

Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of either a cardiomyopathy or cardiac arrhythmia. (nih.gov)
The clinical, biochemical and genetic features of the conditions known as estrogen-dependent inherited angioedema, estrogen-associated angioedema, hereditary angioedema with normal C-1 inhibitor, type III angioedema, or factor XII angioedema are reviewed. (biomedcentral.com)
Palmoplantar keratoderma (PPK) is a complex group of hereditary syndromes that have been classified into diffuse, punctate, and focal forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al. (nih.gov)

As a result, the Finnish population is characterized by higher rates of DNA stretches with a common origin 6 , 7 carrying particular sets of genetic variants. (nature.com)
The diagnosis of SPG11 is established in a proband with characteristic clinical and MRI findings and biallelic pathogenic variants in SPG11 identified on molecular genetic testing . (nih.gov)
Comparison of variants implicated in AI and JEB identifies similarities in type and distribution, with five identified in both conditions, one of which may also cause ERED. (bmj.com)
OMIM:615812]) is a rare autosomal dominant disorder caused by pathogenic variants in the dual-specificity tyrosine phosphorylation-regulated kinase 1B gene ( DYRK1B ) located on chromosome 19q13.2 [ 1 ]. (biomedcentral.com)

It is determined by the autosomal dominant familial polyposis coli gene (APC) on chromosome 5 . (wikipedia.org)
Familial hypertriglyceridemia is typically associated with other co-morbid conditions such as hypertension , obesity , and hyperglycemia . (mdwiki.org)

In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. (nih.gov)

It is not intended to provide details about the diagnosis and management of these conditions. (medscape.com)
The probability of a genetic cause within a differential diagnosis may vary and allow one to weigh or prioritize genetic testing in the evaluation. (medlink.com)
Of course, taking a family history and constructing a pedigree may shift your ranking of a genetic cause in your differential diagnosis. (medlink.com)

Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. (nih.gov)

Exons and flanking regions were sequenced, and segregation patterns of genetic variation were assessed in members of the respective families. (biomedcentral.com)

Conditions associated with abnormal hair color, quality, quantity, and distribution are presented in a series of clinical photographs, and their salient features are discussed. (medscape.com)
Patterns of hair growth can be abnormal, serving as external markers of underlying structural brain and central nervous system abnormalities. (medscape.com)

in these cases, the cause of the condition is often unknown. (medlineplus.gov)
[2] The condition was first described in 1883 and was named after American pediatric cardiologist Jacqueline Noonan, who described further cases in 1963. (handwiki.org)

Hypohidrotic Ectodermal Dysplasia (HED) is a genetic disorder which affects structures of ectodermal origin. (biomedcentral.com)
Pinheiro and Freire-Maia defined as ED any condition with lack or dysgenesis of at least two of the ectodermal derivatives: hair, nails, teeth or eccrine sweet glands [ 1 , 2 ]. (biomedcentral.com)

5] The following images are examples of the characteristic features of this condition. (medscape.com)

The majority of autosomal dominant forms are CMT type 1 (CMT1) subgroup. (cmt.org.uk)
CMTX1 (X-linked, dominant) is the second most common type. (cmt.org.uk)
CMTX and CMT type 4 (CMT4 - usually autosomal recessive) are also demyelinating neuropathies. (cmt.org.uk)
HH association is stronger for KS type 2 (KDM6A-KS, OMIM #300867) than KS type 1 (KMT2D-KS, OMIM #147920). (bvsalud.org)

Clinical description PC presents clinically as a spectrum of conditions. (findzebra.com)

Two validated dietary indices, the empirical dietary index for hyperinsulinemia (EDIH) and the empirical dietary inflammation pattern (EDIP), were estimated from a food-frequency questionnaire. (bvsalud.org)

Pachyonychia congenita (PC) is a rare inherited condition that primarily affects the nails and skin. (findzebra.com)

If an individual has co-morbid conditions, ensuring that they are adequately addressed will aid in obtaining a more normal baseline lipid panel . (mdwiki.org)

Anatomy5

Diseases17

Chemicals and Drugs4

Analytical, Diagnostic and Therapeutic Techniques and Equipment8

Psychiatry and Psychology1

Phenomena and Processes27

Disciplines and Occupations1

Anthropology, Education, Sociology and Social Phenomena1

Information Science2

Health Care4

Inherited in an autosomal dominant manner3

Mutation11

Mutations16

Syndrome33

Follows an autosomal1

Phenotype4

Genes2

Pathogenesis1

Mendelian3

Recessive manner2

Disease11

Genetically heterogeneous1

Penetrance1

Disorders11

Heterogeneity4

Heterogeneous1

Symptoms3

Heterozygous5

Mode of inheritance2

Diseases9

Disorder characterized1

Congenital4

Hereditary3

Variants4

Familial2

Medical genetics1

Diagnosis3

Genetics1

Segregation patterns1

Abnormal2

Cases2

Ectodermal2

Characteristic1

Type4

Clinically1

Frequency1

Rare inherited condition1

Adequately1