Heyn-sproul-jackson syndrome

Preferred Label : Heyn-sproul-jackson syndrome;

Symbol : HESJAS;

CISMeF acronym : HESJAS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Microcephaly, short stature, and impaired intellectual development;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the DNA methyltransferase 3A gene (DNMT3A, 602769.0008);

Prefixed ID : #618724;

Details

Origin ID

618724;

UMLS CUI

C5231475;

Genes related to phenotype
- Dna methyltransferase 3a [OMIM gene]
HPO term(s)
- 11 pairs of ribs [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad forehead [HPO term]
- Broad metacarpals [HPO term]
- Broad phalanx [HPO term]
- Decreased body weight [HPO term]
- Delayed speech and language development [HPO term]
- Epicanthus [HPO term]
- Global developmental delay [HPO term]
- Intrauterine growth retardation [HPO term]
- Microcephaly [HPO term]
- Severe short stature [HPO term]
- Short metacarpal [HPO term]
- Short phalanx of finger [HPO term]
- Sparse hair [HPO term]
- Strabismus [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients