Impaired intellectual development, microcephaly, epilepsy, and coarse face

Preferred Label : Impaired intellectual development, microcephaly, epilepsy, and coarse face;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Mental retardation, microcephaly, epilepsy, and coarse face;

Inheritance : Autosomal recessive;

Prefixed ID : 601352;

Details

Origin ID

601352;

UMLS CUI

C1832437;

Automatic exact mappings (from CISMeF team)
- Battaglia Neri syndrome [MeSH concept]
- Epilepsy-microcephaly-skeletal dysplasia syndrome [ORDO Disease]
- battaglia neri syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- mental retardation, microcephaly, epilepsy, and coarse face [MeSH concept]
- mental retardation, microcephaly, epilepsy, and coarse face [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Coarse facial features [HPO term]
- Delayed skeletal maturation [HPO term]
- Epilepsy [HPO term]
- Hirsutism [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Epilepsy-microcephaly-skeletal dysplasia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- mental retardation, microcephaly, epilepsy, and coarse face [MeSH Supplementary Concept]
- mental retardation, microcephaly, epilepsy, and coarse face [MeSH concept]

Keyword's position in hierarchy(ies) :

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