Paganini-miozzo syndrome

Preferred Label : Paganini-miozzo syndrome;

Symbol : MRXSPM;

CISMeF acronym : MRXSPM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked, syndromic, paganini-miozzo type; MRXSPM;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the heparan sulfate 6-O-sulfotransferase 2 gene (HS6ST2, 300545.0001);

Laboratory abnormalities : Increased serum lactate, mild;

Prefixed ID : #301025;

Details

Origin ID

301025;

UMLS CUI

C5193010;

Automatic exact mappings (from CISMeF team)
- Paganini-Miozzo syndrome [DO Concept]
DO Cross reference
- Paganini-Miozzo syndrome [DO Concept]
Genes related to phenotype
- Heparan sulfate 6-o-sulfotransferase 2 [OMIM gene]
HPO term(s)
- Deeply set eye [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Dilation of lateral ventricles [HPO term]
- Downslanted palpebral fissures [HPO term]
- Downturned corners of mouth [HPO term]
- Febrile seizure (within the age range of 3 months to 6 years) [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- High myopia [HPO term]
- Increased serum lactate [HPO term]
- Large forehead [HPO term]
- Low-set ears [HPO term]
- Mandibular prognathia [HPO term]
- Microtia [HPO term]
- Poor speech [HPO term]
- Thin vermilion border [HPO term]
- Triangular face [HPO term]
- Urinary incontinence [HPO term]
- X-linked recessive inheritance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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