Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly

Preferred Label : Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly;

Symbol : MRT34;

CISMeF acronym : MRT34;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal recessive 34, with variant lissencephaly;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the CASP2 and RIPK1 domain-containing adaptor with death domain gene (CRADD, 603454.0001);

Prefixed ID : #614499;

Details

Origin ID

614499;

UMLS CUI

C3281044;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic intellectual disability [ORDO Disease]
CISMeF manual mappings
- Mental Retardation, Autosomal Recessive 34 [NCIt concept]
DO Cross reference
- autosomal recessive non-syndromic intellectual disability [DO Concept]
Genes related to phenotype
- Casp2 and ripk1 domain-containing adaptor with death domain [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Delayed speech and language development [HPO term]
- Increased head circumference [HPO term]
- Intellectual disability [HPO term]
- Lissencephaly [HPO term]
- Megalencephaly [HPO term]
- Pachygyria [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mental Retardation, Autosomal Recessive 34 [NCIt concept]

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