Intellectual developmental disorder, autosomal dominant 22

Preferred Label : Intellectual developmental disorder, autosomal dominant 22;

Symbol : MRD22;

CISMeF acronym : MRD22;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 22;

Included titles and symbols : Chromosome 1q43-q44 deletion syndrome; Chromosome 1qter deletion syndrome;

Description : Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).;

Inheritance : Autosomal dominant;

Molecular basis : Contiguous gene deletion syndrome caused by deletion (3.5Mb) of 1q32-q44; Caused by mutation in the zinc finger and BTB domain containing 18 gene (ZBTB18, 608433.0001);

Prefixed ID : #612337;

Details

Origin ID

612337;

UMLS CUI

C2676727;

Automatic exact mappings (from CISMeF team)
- 1q42qter deletion [ICD-11 More detail]
Currated CISMeF NLP mapping
- autosomal dominant non-syndromic intellectual disability 22 [DO Concept]
DO Cross reference
- autosomal dominant non-syndromic intellectual disability 22 [DO Concept]
Genes related to phenotype
- Zinc finger- and btb domain-containing protein 18 [OMIM gene]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Absent speech [HPO term]
- Agenesis of corpus callosum [HPO term]
- Autosomal dominant inheritance [HPO term]
- Depressed nasal bridge [HPO term]
- Epicanthus [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Prominent forehead [HPO term]
- Round face [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Smooth philtrum [HPO term]
- Thin upper lip vermilion [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Distal monosomy 1q [ORDO Disease]
See also inter- (CISMeF)
- Distal monosomy 1q [ORDO Disease]
- Distal monosomy 1q syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- chromosome 1q43-Q44 deletion syndrome [MeSH concept]
- chromosome 1q43-Q44 deletion syndrome [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- chromosome 1q43-Q44 deletion syndrome [MeSH concept]
- chromosome 1q43-Q44 deletion syndrome [MeSH Supplementary Concept]

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