Chromosome 20q11-q12 deletion syndrome

Preferred Label : Chromosome 20q11-q12 deletion syndrome;

CISMeF acronym : MRD11;

Type : Phenotype, molecular basis known;

Included titles and symbols : MRD11; Mental retardation, autosomal dominant 11; Intellectual developmental disorder, autosomal dominant 11;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the erythrocyte membrane protein band 4.1-like 1 gene (EPB41L1, 602879.0001);

Prefixed ID : #614257;

Details

Origin ID

614257;

UMLS CUI

C3280285;

Currated CISMeF NLP mapping
- autosomal dominant non-syndromic intellectual disability 11 [DO Concept]
DO Cross reference
- autosomal dominant non-syndromic intellectual disability 11 [DO Concept]
Genes related to phenotype
- Erythrocyte membrane protein band 4.1-like 1 [OMIM gene]
HPO term(s)
- Adducted thumb [HPO term]
- Autosomal dominant inheritance [HPO term]
- Behavioral abnormality [HPO term]
- Brachydactyly [HPO term]
- Camptodactyly [HPO term]
- Deeply set eye [HPO term]
- Feeding difficulties in infancy [HPO term]
- Finger clinodactyly [HPO term]
- Frontal bossing [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- High forehead [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Intellectual disability, severe [HPO term]
- Intrauterine growth retardation [HPO term]
- Midface retrusion [HPO term]
- Short philtrum [HPO term]
- Tarsal osteovalgus [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]

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