Intellectual developmental disorder, autosomal recessive 5

Preferred Label : Intellectual developmental disorder, autosomal recessive 5;

Symbol : MRT5;

CISMeF acronym : MRT5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal recessive 5;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the NOL1/NOP2/SUN domain family, member 2 gene NSUN2 (610916.0001);

Laboratory abnormalities : Increased serum lactate dehydrogenase (in 1 family); Increased serum creatine kinase (1 family);

Prefixed ID : #611091;

Détails

Origin ID

611091;

UMLS CUI

C1970199;

Currated CISMeF NLP mapping
- mental retardation, autosomal recessive 5 [MeSH concept]
- mental retardation, autosomal recessive 5 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive non-syndromic intellectual disability [DO Concept]
Genes related to phenotype
- Nop2/sun rna methyltransferase family, member 2 [OMIM gene]
HPO term(s)
- Achilles tendon contracture [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blepharophimosis [HPO term]
- Delayed speech and language development [HPO term]
- Dysarthria [HPO term]
- Eczema [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypertelorism [HPO term]
- Hypertonia [HPO term]
- Hypotelorism [HPO term]
- Intellectual disability [HPO term]
- Long face [HPO term]
- Microcephaly [HPO term]
- Narrow face [HPO term]
- Pes cavus [HPO term]
- Postnatal growth retardation [HPO term]
- Prominent nasal bridge [HPO term]
- Prominent nose [HPO term]
- Seizure [HPO term]
- Short chin [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Small for gestational age [HPO term]
- Smooth philtrum [HPO term]
- Sparse hair [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
- Synophrys [HPO term]
- Telecanthus [HPO term]
- Thick eyebrow [HPO term]
- Thick upper lip vermilion [HPO term]
- Underdeveloped nasal alae [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- mental retardation, autosomal recessive 5 [MeSH Supplementary Concept]
- mental retardation, autosomal recessive 5 [MeSH concept]

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