Intellectual developmental disorder, X-linked, syndromic, lujan-fryns type

Preferred Label : Intellectual developmental disorder, X-linked, syndromic, lujan-fryns type;

Symbol : MRXSLF;

CISMeF acronym : MRXSLF;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked, with marfanoid habitus, 1; Lujan-fryns syndrome;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the S. cerevisiae homolog of mediator of RNA polymerase II transcription, subunit 12 gene (MED12, 300188.0002);

Prefixed ID : #309520;

Details

Origin ID

309520;

UMLS CUI

C0796022;

Automatic exact mappings (from CISMeF team)
- X-linked intellectual disability with marfanoid habitus (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Lujan Fryns syndrome [MeSH concept]
- Lujan-Fryns syndrome [ORDO Disease]
- X-linked intellectual deficit with marfanoid habitus [ICD-11 More detail]
- lujan fryns syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Mediator complex subunit 12 [OMIM gene]
HPO term(s)
- Abnormal rib cage morphology [HPO term]
- Abnormality of the genitourinary system [HPO term]
- Abnormally folded helix [HPO term]
- Agenesis of corpus callosum [HPO term]
- Aggressive behavior [HPO term]
- Arachnodactyly [HPO term]
- Ascending tubular aorta aneurysm [HPO term]
- Atrial septal defect [HPO term]
- Autism [HPO term]
- Broad phalanges of the thumb [HPO term]
- Broad thumb [HPO term]
- Deep philtrum [HPO term]
- Dental crowding [HPO term]
- Disproportionate tall stature [HPO term]
- Emotional lability [HPO term]
- Flexion contracture [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- High nasal bridge [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hyperactivity [HPO term]
- Hypernasal speech [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Impaired social interactions [HPO term]
- Intellectual disability [HPO term]
- Joint laxity [HPO term]
- Long face [HPO term]
- Long nose [HPO term]
- Low frustration tolerance [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Micrognathia [HPO term]
- Narrow face [HPO term]
- Narrow nasal bridge [HPO term]
- Nasal speech [HPO term]
- Obsessive-compulsive behavior [HPO term]
- Open mouth [HPO term]
- Pectus excavatum [HPO term]
- Prominent forehead [HPO term]
- Prominent nasal bridge [HPO term]
- Psychosis [HPO term]
- Seizure [HPO term]
- Short philtrum [HPO term]
- Thin upper lip vermilion [HPO term]
- Ventricular septal defect [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Lujan-Fryns syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lujan Fryns syndrome [MeSH concept]
- Lujan-Fryns syndrome [ORDO Disease]
- X-linked intellectual disability with marfanoid habitus (disorder) [SNOMED CT concept]
- lujan fryns syndrome [MeSH Supplementary Concept]
- syndromic X-linked intellectual disability 14 [DO Concept]

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