However, in a unilateral case, overaction of the superior rectus muscle in the unaffected dominant eye, can also be a causing factor as well as causing a V pattern exophoria.

This patient had developed PTC with nodal metastases at the age of 24 years. INHERITANCE - Autosomal dominant NEOPLASIA - Nonmedullary thyroid carcinoma (papillary, follicular, or tall cell variants) - Goiter, nodular MISCELLANEOUS - One family and one sporadic case of Portuguese descent have been reported (last curated September 2015) MOLECULAR BASIS - Susceptibility conferred by mutation in the forkhead box E1 gene (FOXE1, 602617.0004 ) ▲ Close

Learn more about the genes associated with Loeys-Dietz syndrome SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2 Inheritance Pattern Loeys-Dietz syndrome has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Oxford University Press . 40 (1): 15–57. doi : 10.1093/brain/40.1.15 . ^ a b Zeki, Semir; ffytche, Dominic H. (1998). "The Riddoch syndrome: insights into the neurobiology of conscious vision" .

The findings indicated that mutations in the SYT1 gene cause a defect in presynaptic vesicle dynamics, resulting in a neurodevelopmental disorder. INHERITANCE - Autosomal dominant HEAD & NECK Face - High forehead - Fine facial features - Smooth philtrum Eyes - Poor or absent eye contact - Epicanthal folds - Almond-shaped eyes - Strabismus - Nystagmus - Central visual impairment - Low-set eyebrows Nose - Short nose - Prominent nasal tip Mouth - Thin upper lip RESPIRATORY - Sleep apnea ABDOMEN Gastrointestinal - Feeding difficulties - Gastroesophageal reflux SKELETAL - Joint laxity Spine - Scoliosis Feet - Foot deformities MUSCLE, SOFT TISSUES - Hypotonia, neonatal NEUROLOGIC Central Nervous System - Global developmental delay - Poor or absent speech - Impaired intellectual development, moderate to severe - Delayed walking - Inability to walk - Involuntary movements - Hyperkinetic movements - Dystonia - Dyskinesia - Choreoathetosis - Ataxia - No overt seizures - Abnormal EEG - Nonspecific white matter abnormalities (in some patients) Behavioral Psychiatric Manifestations - Angry outbursts - Self-harm - Stereotypic behavior - Unpredictable behavior MISCELLANEOUS - Onset in infancy - De novo mutation MOLECULAR BASIS - Caused by mutation in the synaptotagmin 1 gene (SYT1, 185605.0001 ) ▲ Close

Cardiac - Orthostatic hypotension Inheritance - Autosomal dominant Neuro - Syncope Lab - Hyperbradykininism Skin - Facial erythema - Ecchymoses, and purple leg discoloration after standing ▲ Close

Learn more about the gene associated with Oral-facial-digital syndrome OFD1 Inheritance Pattern Oral-facial-digital syndrome type I is inherited in an X-linked dominant pattern . The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes .

Achondrogenesis type 2 is considered an autosomal dominant disorder because one copy of the altered gene in each cell is sufficient to cause the condition.

Description Familial dysalbuminemic hyperthyroxinemia is an autosomal dominant condition characterized by the presence of a variant serum albumin with preferential affinity for thyroxine (T4) in clinically euthyroid individuals.

The findings indicated that a DFNB12 allele is phenotypically dominant to a USH1D allele, and can preserve normal retinal and vestibular function even in the presence of a USH1D allele.

References [ edit ] External links [ edit ] Classification D OMIM : 606392 MeSH : C563451 v t e Disease of the pancreas and glucose metabolism Diabetes Types type 1 type 2 gestational MODY 1 2 3 4 5 6 Complications See Template:Diabetes Abnormal blood glucose levels Hyperglycaemia Oxyhyperglycemia Hypoglycaemia Whipple's triad Insulin disorders Insulin resistance Hyperinsulinism Rabson–Mendenhall syndrome Other pancreatic disorders Insulinoma Insulitis v t e Genetic disorders relating to deficiencies of transcription factor or coregulators (1) Basic domains 1.2 Feingold syndrome Saethre–Chotzen syndrome 1.3 Tietz syndrome (2) Zinc finger DNA-binding domains 2.1 ( Intracellular receptor ): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis 2.2 Barakat syndrome Tricho–rhino–phalangeal syndrome 2.3 Greig cephalopolysyndactyly syndrome / Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy 2 2.5 Autoimmune polyendocrine syndrome type 1 (3) Helix-turn-helix domains 3.1 ARX Ohtahara syndrome Lissencephaly X2 MNX1 Currarino syndrome HOXD13 SPD1 synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome 3.2 PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3 3.3 FOXC1 Axenfeld syndrome 3 Iridogoniodysgenesis, dominant type FOXC2 Lymphedema–distichiasis syndrome FOXE1 Bamforth–Lazarus syndrome FOXE3 Anterior segment mesenchymal dysgenesis FOXF1 ACD/MPV FOXI1 Enlarged vestibular aqueduct FOXL2 Premature ovarian failure 3 FOXP3 IPEX 3.5 IRF6 Van der Woude syndrome Popliteal pterygium syndrome (4) β-Scaffold factors with minor groove contacts 4.2 Hyperimmunoglobulin E syndrome 4.3 Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome 4.7 Campomelic dysplasia MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome 4.11 Cleidocranial dysostosis (0) Other transcription factors 0.6 Kabuki syndrome Ungrouped TCF4 Pitt–Hopkins syndrome ZFP57 TNDM1 TP63 Rapp–Hodgkin syndrome / Hay–Wells syndrome / Ectrodactyly–ectodermal dysplasia–cleft syndrome 3 / Limb–mammary syndrome / OFC8 Transcription coregulators Coactivator: CREBBP Rubinstein–Taybi syndrome Corepressor: HR ( Atrichia with papular lesions ) [1] This article about an endocrine, nutritional, or metabolic disease is a stub .

Learn more about the gene associated with GRN-related frontotemporal lobar degeneration GRN Inheritance Pattern GRN -related frontotemporal lobar degeneration has a pattern of inheritance known as incomplete autosomal dominance. This means having one copy of the altered gene generally results in milder signs and symptoms than having both copies of the altered gene.

A number sign (#) is used with this entry because of evidence that autosomal recessive myosin storage myopathy (MSMB) is caused by homozygous mutation in the MYH7 gene (160760) on chromosome 14q12. An autosomal dominant form of myosin storage myopathy (MSMA; 608358) is caused by heterozygous mutation in the MYH7 gene.

External links [ edit ] Classification D OMIM : 606394 MeSH : C565231 v t e Disease of the pancreas and glucose metabolism Diabetes Types type 1 type 2 gestational MODY 1 2 3 4 5 6 Complications See Template:Diabetes Abnormal blood glucose levels Hyperglycaemia Oxyhyperglycemia Hypoglycaemia Whipple's triad Insulin disorders Insulin resistance Hyperinsulinism Rabson–Mendenhall syndrome Other pancreatic disorders Insulinoma Insulitis v t e Genetic disorders relating to deficiencies of transcription factor or coregulators (1) Basic domains 1.2 Feingold syndrome Saethre–Chotzen syndrome 1.3 Tietz syndrome (2) Zinc finger DNA-binding domains 2.1 ( Intracellular receptor ): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis 2.2 Barakat syndrome Tricho–rhino–phalangeal syndrome 2.3 Greig cephalopolysyndactyly syndrome / Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy 2 2.5 Autoimmune polyendocrine syndrome type 1 (3) Helix-turn-helix domains 3.1 ARX Ohtahara syndrome Lissencephaly X2 MNX1 Currarino syndrome HOXD13 SPD1 synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome 3.2 PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3 3.3 FOXC1 Axenfeld syndrome 3 Iridogoniodysgenesis, dominant type FOXC2 Lymphedema–distichiasis syndrome FOXE1 Bamforth–Lazarus syndrome FOXE3 Anterior segment mesenchymal dysgenesis FOXF1 ACD/MPV FOXI1 Enlarged vestibular aqueduct FOXL2 Premature ovarian failure 3 FOXP3 IPEX 3.5 IRF6 Van der Woude syndrome Popliteal pterygium syndrome (4) β-Scaffold factors with minor groove contacts 4.2 Hyperimmunoglobulin E syndrome 4.3 Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome 4.7 Campomelic dysplasia MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome 4.11 Cleidocranial dysostosis (0) Other transcription factors 0.6 Kabuki syndrome Ungrouped TCF4 Pitt–Hopkins syndrome ZFP57 TNDM1 TP63 Rapp–Hodgkin syndrome / Hay–Wells syndrome / Ectrodactyly–ectodermal dysplasia–cleft syndrome 3 / Limb–mammary syndrome / OFC8 Transcription coregulators Coactivator: CREBBP Rubinstein–Taybi syndrome Corepressor: HR ( Atrichia with papular lesions ) This article about an endocrine, nutritional, or metabolic disease is a stub .

ISBN 978-1-4160-2999-1 . ^ Harvey, Nathan T.; Spagnolo, Dominic V.; Wood, Benjamin A. (2015-12-01). " ' Could it be mycosis fungoides?'

Article 124, finally, allowed for attenuating circumstances: the prescribed penalty for abortion would be reduced by three quarters when the pregnancy was the result of rape or non-consensual artificial insemination. [4] Legislation (2015 - current) [ edit ] In November 2015, Attorney General Eduardo Montealegre announced that he would send a bill to Congress legalizing abortion on request in the first 12 weeks of pregnancy. The Minister of Health, Alejandro Gaviria , supports legalizing abortion but said that Montealegre's bill was not the most suitable mechanism to do so, claiming instead that the obstacles are not legal but rather disinformation and cultural factors. [5] [6] On March 14, 2020 the Colombian Constitutional Court issued a decision regarding a claim received against the current law which requested a complete ban on abortions. ... The Magisterium assailed modern notions of liberty where people take as their sole and indisputable reference for their own choices, "not the truth about good and evil, but only their subjective and changeable opinion or even their selfish and whimsical interest", leading to the loss of any reference to common values and to a state where everything is negotiable, "even the first of the fundamental rights, the right to life." [1] The Episcopal Conference argued that the "original and inalienable right to life" could not be subject to political debate, and stated that to "claim the right to abortion, to infanticide [...], means attributing to human freedom a perverse and evil significance: absolute power over and against others." [1] Notably, opponents of the challenge to the law brought attention to the American Convention on Human Rights , which states in article 4.1 that "Every person has the right to have his life respected. ... However, a complete ban on abortion meant the complete dominance of one legal interest (the life of the unborn) over all others, specifically the fundamental rights of the mother. [1] The Colombian Constitution, in the Court's opinion, is characterized by the coexistence of several values, principles and rights - none of which have an absolute value against the others. ... Retrieved 2020-04-16 . ^ "Colombia's Constitutional Court rules against legalizing abortion in first 16 weeks of pregnancy" . Reuters . 2020-03-03 .

Abortion in Italy became legal in May 1978, when Italian women were allowed to terminate a pregnancy on request during the first 90 days. A proposal to repeal the law was considered in a 1981 referendum , but was rejected by nearly 68% of voters; another referendum aimed at eliminating the restrictions was rejected by 88.4%. [1] Italian women are eligible to request an abortion for health, economic or social reasons, including the circumstances under which conception occurred. ... Subsequent to the legalization of abortion in Italy in 1978, abortion rates among Italian women first rose and then declined steadily, from a peak of 16.9 abortions per 1,000 women of reproductive age in 1983 to 9.8 per 1,000 in 1993. ... These bills did not reach the discussion state before the dissolution of parliament and the calling of new elections. [13] In 1973 the fight to legalize abortion was begun with the Fortuna first bill. [14] Fortuna's law provided for the possibility of therapeutic abortions but required the agreement of 3 doctors and precluded abortion unless the woman was seriously ill or insane. ... The law presents two different scenarios: [21] 1) Pregnancy during the first 90 days (Art. 4) [20] In order to practice the termination of pregnancy during the first 90 days, women whose situation is such that continuation of the pregnancy, childbirth, or motherhood would seriously compromise their physical or mental health, in view of their state of health, their economic, social, or family circumstances, the circumstances in which conception occurred, or the chance that the child would be born with abnormalities or malformations, shall apply to a public counselling center or to a fully authorized medical-social agency in the region, or to a physician of her choice. [20] Art. 5 extend the explanation of family counselling centre when economic, social or family circumstances motivate the reasons to interrupt the pregnancy. [20] 2) Pregnancy after the first 90 days (Art.6) [20] Voluntary termination of pregnancy may be performed after the first 90 days when the pregnancy or childbirth is a serious threat to the woman's life or when the pathological processes constitute a serious threat to the woman's physical or mental health, such as those associated with serious abnormalities or malformations of the fetus, have been diagnosed. [20] Furthermore, there is the need for guardian's approval if a girl that is under 18 years old or the woman that is interdicted in order to carry out abortion (Art. 12 and Art. 14). [20] Articles 18 and 19 cover the consequences for any person inducing a termination without the consent of the woman. ... BEN-Notiziario ISS-Vol.14-n.4. < https://web.archive.org/web/20080918092219/http://www.ben.iss.it/precedenti/aprile/1apr_en.htm%3E . v t e Italy articles History Chronology Prehistory Italic peoples Ancient peoples of Italy Pre-Nuragic Sardinia Nuragic peoples Etruscan civilization Nuragic civilization Phoenician/Carthaginian colonies Magna Graecia Ancient Rome Kingdom Republic Empire Western Empire Middle Ages Italy under Odoacer Ostrogoths Byzantium Lombards the Holy Roman Empire the Sardinian Judicates Arabs Normans Guelphs and Ghibellines the Italian city-states the maritime republics Renaissance Italian Wars Early Modern period Unification Revolutions of 1820 Revolutions of 1830 Revolutions of 1848 Sicilian revolution of 1848 First War of Independence Crimean War Second War of Independence Expedition of the Thousand Third War of Independence Capture of Rome Monarchy and the World Wars Kingdom of Italy Colonial Empire World War I Fascist Italy World War II Resistance and Social 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In the absence of serious problems, life expectancy is normal, while complete trisomy 8 is lethal and often results in miscarriage during the first trimester. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm).

La Crosse (LAC) encephalitis is a mosquito-borne virus that was first described in La Crosse, Wisconsin in 1963.

Farag and Teebi (1990) described 3 brothers, the offspring of first cousins once removed, with this combination.