Chromosome 3q13.31 deletion syndrome

Preferred Label : Chromosome 3q13.31 deletion syndrome;

Type : Phenotype, molecular basis known;

Description : The chromosome 3q13.31 deletion syndrome is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia (Molin et al., 2012).;

Inheritance : Autosomal dominant;

Molecular basis : Contiguous gene syndrome caused by deletion (580kb-22.5Mb) of 3q13.31;

Prefixed ID : #615433;

Détails

Origin ID

615433;

UMLS CUI

C3809490;

Currated CISMeF NLP mapping
- 3q13 deletion [ICD-11 More detail]
- 3q13 microdeletion syndrome [ORDO Disease]
- 3q13 microdeletion syndrome (disorder) [SNOMED CT concept]
- Chromosome 3, monosomy 3q13 [MeSH concept]
- chromosome 3, monosomy 3q13 [MeSH Supplementary Concept]
- chromosome 3q13.31 deletion syndrome [DO Concept]
DO Cross reference
- chromosome 3q13.31 deletion syndrome [DO Concept]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Alobar holoprosencephaly [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachycephaly [HPO term]
- Broad forehead [HPO term]
- Cryptorchidism [HPO term]
- Decreased testicular size [HPO term]
- Delayed speech and language development [HPO term]
- Dolichocephaly [HPO term]
- Epicanthus [HPO term]
- High palate [HPO term]
- High, narrow palate [HPO term]
- Hypertelorism [HPO term]
- Low-set ears [HPO term]
- Macrotia [HPO term]
- Micropenis [HPO term]
- Myopia [HPO term]
- Plagiocephaly [HPO term]
- Ptosis [HPO term]
- Shawl scrotum [HPO term]
- Short philtrum [HPO term]
- Strabismus [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- 3q13 microdeletion syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients