Seizures, scoliosis, and macrocephaly/microcephaly syndrome

Preferred Label : Seizures, scoliosis, and macrocephaly/microcephaly syndrome;

Symbol : SSMS;

CISMeF acronym : SSMS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the exostosin glycosyltransferase 2 gene (EXT2, 608210.0008);

Laboratory abnormalities : Decreased heparan sulfate levels in blood and urine;

Prefixed ID : #616682;

Détails

Origin ID

616682;

UMLS CUI

C4225248;

Automatic exact mappings (from CISMeF team)
- EXT2 wt Allele [NCIt concept]
CISMeF manual mappings
- Seizures-scoliosis-macrocephaly syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Seizures, scoliosis, macrocephaly syndrome (disorder) [SNOMED CT concept]
Genes related to phenotype
- Exostosin glycosyltransferase 2 [OMIM gene]
HPO term(s)
- Autistic behavior [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bulbous nose [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Coarse facial features [HPO term]
- Constipation [HPO term]
- Cryptorchidism [HPO term]
- Feeding difficulties [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic philtrum [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Macrocephaly [HPO term]
- Microcephaly [HPO term]
- Motor delay [HPO term]
- Nail dysplasia [HPO term]
- Overlapping toe [HPO term]
- Patent ductus arteriosus [HPO term]
- Pes planus [HPO term]
- Poor speech [HPO term]
- Preauricular skin tag [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Sparse hair [HPO term]
- Strabismus [HPO term]
- Unsteady gait [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Seizures-scoliosis-macrocephaly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Seizures, scoliosis, macrocephaly syndrome (disorder) [SNOMED CT concept]
- Seizures-scoliosis-macrocephaly syndrome [ORDO Disease]

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