Imagawa-matsumoto syndrome

Preferred Label : Imagawa-matsumoto syndrome;

Symbol : IMMAS;

CISMeF acronym : IMMAS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SUZ12 polycomb repressive complex 2 subunit gene (SUZ12, 606245.0001);

Prefixed ID : #618786;

Details

Origin ID

618786;

UMLS CUI

C5394073;

Genes related to phenotype
- Suz12 polycomb repressive complex 2 subunit [OMIM gene]
HPO term(s)
- Accelerated skeletal maturation [HPO term]
- Agenesis of corpus callosum [HPO term]
- Anteriorly placed anus [HPO term]
- Autosomal dominant inheritance [HPO term]
- Birth length greater than 97th percentile [HPO term]
- Camptodactyly [HPO term]
- Clinodactyly [HPO term]
- Cryptorchidism [HPO term]
- Downslanted palpebral fissures [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Hypertrichosis [HPO term]
- Intellectual disability [HPO term]
- Large hands [HPO term]
- Long foot [HPO term]
- Macrocephaly [HPO term]
- Mandibular prognathia [HPO term]
- Melanocytic nevus [HPO term]
- Overgrowth [HPO term]
- Polymicrogyria [HPO term]
- Prominent forehead [HPO term]
- Prominent supraorbital ridges [HPO term]
- Round face [HPO term]
- Tall stature [HPO term]
- Umbilical hernia [HPO term]
- Wide nasal ridge [HPO term]
ORDO concept(s)
- Weaver syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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