Corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma, and micrognathia

Preferred Label : Corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma, and micrognathia;

CISMeF acronym : MRXS28;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked, syndromic 28; MRXS28; Intellectual development disorder, X-linked, syndromic 28;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the immunoglobulin-binding protein-1 gene (IGBP1, 300139.0001);

Prefixed ID : #300472;

Détails

Origin ID

300472;

UMLS CUI

C1845446;

CISMeF manual mappings
- Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome [ORDO Disease]
- corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome [DO Concept]
- corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia [MeSH concept]
- corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia [MeSH Supplementary Concept]
DO Cross reference
- corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome [DO Concept]
Genes related to phenotype
- Immunoglobulin-binding protein 1 [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Bifid uvula [HPO term]
- Bilateral cryptorchidism [HPO term]
- Broad forehead [HPO term]
- Broad neck [HPO term]
- Choanal atresia [HPO term]
- Chronic constipation [HPO term]
- Congenital onset [HPO term]
- Cupped ear [HPO term]
- Downslanted palpebral fissures [HPO term]
- High forehead [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Intellectual disability [HPO term]
- Iris coloboma [HPO term]
- Lop ear [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Mixed hearing impairment [HPO term]
- Nystagmus [HPO term]
- Optic disc coloboma [HPO term]
- Patent ductus arteriosus [HPO term]
- Pectus excavatum [HPO term]
- Prominent nasal bridge [HPO term]
- Recurrent aspiration pneumonia [HPO term]
- Recurrent pneumonia [HPO term]
- Retrognathia [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Thoracolumbar scoliosis [HPO term]
- Ventricular septal defect [HPO term]
- Visual impairment [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome [ORDO Disease]
- corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia [MeSH Supplementary Concept]
- corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia [MeSH concept]

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