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- Lenz_microphthalmia_syndrome abstract "Lenz microphthalmia syndrome (or LMS) is a very rare inherited disorder characterized by abnormal smallness of one or both eyes (microphthalmos) sometimes with droopy eyelids (blepharoptosis), resulting in visual impairment or blindness. Eye problems may include coloboma, microcornea, and glaucoma. Some affected infants may have complete absence of the eyes (anophthalmia). Most affected infants have developmental delay and intellectual disability, ranging from mild to severe. Other physical abnormalities associated with this disorder can include an unusually small head (microcephaly), and malformations of the teeth, ears, fingers or toes, skeleton, and genitourinary system. The range and severity of findings vary from case to case. Formal diagnosis criteria do not exist.Lenz microphthalmia syndrome is inherited as an X-linked recessive genetic trait and is fully expressed in males only. Females who carry one copy of the disease gene (heterozygotes) may exhibit some of the symptoms associated with the disorder, such as an abnormally small head (microcephaly), short stature, or malformations of the fingers or toes. Molecular genetic testing of BCOR (MCOPS2 locus), the only gene known to be associated with Lenz microphthalmia syndrome, is available on a clinical basis. One additional locus on the X chromosome (MCOPS1) is known to be associated with LMS. Lenz microphthalmia syndrome is also known as LMS, Lenz syndrome, Lenz dysplasia, Lenz dysmorphogenetic syndrome, or microphthalmia with multiple associated anomalies (MAA: OMIM 309800). It is named after Widukind Lenz, a German geneticist and dysmorphologist.A somewhat similar X-linked syndrome of microphthalmia, called Oculofaciocardiodental syndrome (OFCD) is associated with mutations in BCOR. OFCD syndrome is inherited in an X-linked dominant pattern with male lethality.".
- Lenz_microphthalmia_syndrome wikiPageExternalLink NBK1521.
- Lenz_microphthalmia_syndrome wikiPageID "34262177".
- Lenz_microphthalmia_syndrome wikiPageLength "2014".
- Lenz_microphthalmia_syndrome wikiPageOutDegree "14".
- Lenz_microphthalmia_syndrome wikiPageRevisionID "602739427".
- Lenz_microphthalmia_syndrome wikiPageWikiLink Anophthalmia.
- Lenz_microphthalmia_syndrome wikiPageWikiLink BCOR.
- Lenz_microphthalmia_syndrome wikiPageWikiLink Category:Syndromes.
- Lenz_microphthalmia_syndrome wikiPageWikiLink Coloboma.
- Lenz_microphthalmia_syndrome wikiPageWikiLink Glaucoma.
- Lenz_microphthalmia_syndrome wikiPageWikiLink Intellectual_disability.
- Lenz_microphthalmia_syndrome wikiPageWikiLink Microcephaly.
- Lenz_microphthalmia_syndrome wikiPageWikiLink Microphthalmia.
- Lenz_microphthalmia_syndrome wikiPageWikiLink Oculofaciocardiodental_syndrome.
- Lenz_microphthalmia_syndrome wikiPageWikiLink Ptosis_(eyelid).
- Lenz_microphthalmia_syndrome wikiPageWikiLink Specific_developmental_disorder.
- Lenz_microphthalmia_syndrome wikiPageWikiLink Widukind_Lenz.
- Lenz_microphthalmia_syndrome wikiPageWikiLink X-linked_recessive_inheritance.
- Lenz_microphthalmia_syndrome wikiPageWikiLink Zygosity.
- Lenz_microphthalmia_syndrome wikiPageWikiLinkText "Lenz microphthalmia syndrome".
- Lenz_microphthalmia_syndrome subject Category:Syndromes.
- Lenz_microphthalmia_syndrome type Syndrome.
- Lenz_microphthalmia_syndrome comment "Lenz microphthalmia syndrome (or LMS) is a very rare inherited disorder characterized by abnormal smallness of one or both eyes (microphthalmos) sometimes with droopy eyelids (blepharoptosis), resulting in visual impairment or blindness. Eye problems may include coloboma, microcornea, and glaucoma. Some affected infants may have complete absence of the eyes (anophthalmia). Most affected infants have developmental delay and intellectual disability, ranging from mild to severe.".
- Lenz_microphthalmia_syndrome label "Lenz microphthalmia syndrome".
- Lenz_microphthalmia_syndrome sameAs Q6523439.
- Lenz_microphthalmia_syndrome sameAs Lenz-Syndrom.
- Lenz_microphthalmia_syndrome sameAs m.0hzqnt0.
- Lenz_microphthalmia_syndrome sameAs Q6523439.
- Lenz_microphthalmia_syndrome wasDerivedFrom Lenz_microphthalmia_syndrome?oldid=602739427.
- Lenz_microphthalmia_syndrome isPrimaryTopicOf Lenz_microphthalmia_syndrome.