Intellectual developmental disorder, autosomal recessive 70

Preferred Label : Intellectual developmental disorder, autosomal recessive 70;

Symbol : MRT70;

CISMeF acronym : MRT70;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal recessive 70;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the arginine/serine-rich coiled-coil protein 1 gene (RSRC1, 613352.0001);

Prefixed ID : #618402;

Details

Origin ID

618402;

UMLS CUI

C5193077;

Genes related to phenotype
- Arginine/serine-rich coiled-coil protein 1 [OMIM gene]
HPO term(s)
- Attention deficit hyperactivity disorder [HPO term]
- Autistic behavior [HPO term]
- Autosomal recessive inheritance [HPO term]
- Delayed speech and language development [HPO term]
- Drooling [HPO term]
- Febrile seizure (within the age range of 3 months to 6 years) [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Motor delay [HPO term]
- Retrognathia [HPO term]
- Seizure [HPO term]
- Severe temper tantrums [HPO term]
- Urinary incontinence [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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