Intellectual developmental disorder, autosomal recessive 38

Preferred Label : Intellectual developmental disorder, autosomal recessive 38;

Symbol : MRT38;

CISMeF acronym : MRT38;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal recessive 38;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the HECT domain and RCC1-like domain 2 (HERC2, 605837.0004);

Prefixed ID : #615516;

Details

Origin ID

615516;

UMLS CUI

C3809753;

Automatic exact mappings (from CISMeF team)
- Developmental delay with autism spectrum disorder and gait instability [ORDO Disease]
- HERC2 wt Allele [NCIt concept]
DO Cross reference
- autosomal recessive non-syndromic intellectual disability [DO Concept]
Genes related to phenotype
- Hect domain and rcc1-like domain 2 [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Autistic behavior [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blue irides [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Diminished ability to concentrate [HPO term]
- Echolalia [HPO term]
- Febrile seizure (within the age range of 3 months to 6 years) [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperactivity [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Mandibular prognathia [HPO term]
- Narrow palate [HPO term]
- Neonatal hypotonia [HPO term]
- Plagiocephaly [HPO term]
- Recurrent hand flapping [HPO term]
- Sandal gap [HPO term]
- Seizure [HPO term]
- Self-mutilation [HPO term]
- Strabismus [HPO term]
- Unsteady gait [HPO term]
ORDO concept(s)
- Developmental delay with autism spectrum disorder and gait instability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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