Arthrogryposis, impaired intellectual development, and seizures

Preferred Label : Arthrogryposis, impaired intellectual development, and seizures;

Symbol : AMRS;

CISMeF acronym : AMRS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Arthrogryposis, mental retardation, and seizures;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 35 (UDP-N-acetylglucosamine transporter), member 3 gene (SLC35A3, 605632.0001);

Prefixed ID : #615553;

Details

Origin ID

615553;

UMLS CUI

C3809910;

Automatic exact mappings (from CISMeF team)
- Autism spectrum disorder-epilepsy-arthrogryposis syndrome [ORDO Disease]
Genes related to phenotype
- Solute carrier family 35 (udp-n-acetylglucosamine transporter), member 3 [OMIM gene]
HPO term(s)
- Acetabular dysplasia [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autistic behavior [HPO term]
- Autosomal recessive inheritance [HPO term]
- Camptodactyly of finger [HPO term]
- Fetal onset [HPO term]
- Focal motor seizure [HPO term]
- Generalized hypotonia [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Global developmental delay [HPO term]
- Hip dislocation [HPO term]
- Intellectual disability [HPO term]
- Knee dislocation [HPO term]
- Microcephaly [HPO term]
- Microretrognathia [HPO term]
- Scoliosis [HPO term]
ORDO concept(s)
- Autism spectrum disorder-epilepsy-arthrogryposis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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