Shashi-pena syndrome

Preferred Label : Shashi-pena syndrome;

Symbol : SHAPNS;

CISMeF acronym : SHAPNS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the additional sex combs-like 2 gene (ASXL2, 612991.0001);

Prefixed ID : #617190;

Details

Origin ID

617190;

UMLS CUI

C4310672;

Genes related to phenotype
- Asxl transcriptional regulator 2 [OMIM gene]
HPO term(s)
- Accelerated skeletal maturation [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad nasal tip [HPO term]
- Deep palmar crease [HPO term]
- Delayed speech and language development [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Highly arched eyebrow [HPO term]
- Hypertelorism [HPO term]
- Hypoglycemia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Kyphosis [HPO term]
- Long face [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Nevus [HPO term]
- Osteoporosis [HPO term]
- Posteriorly rotated ears [HPO term]
- Proptosis [HPO term]
- Ptosis [HPO term]
- Retrognathia [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Ventriculomegaly [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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