Microcephaly, autosomal dominant

Preferred Label : Microcephaly, autosomal dominant;

Type : Phenotype or locus, molecular basis unknown;

Description : Microcephaly strictly means abnormally small head size, but usually refers to an occipitofrontal head circumference below -2 SD from the mean for the infant's gestational age, sex, and ethnic origin. Microcephaly may appear as an isolated trait or in association with other malformations. It may also be sporadic or familial. Some familial cases are autosomal dominant, but most appear to be recessive (see 251200) (summary by Merlob et al., 1988).;

Inheritance : Autosomal dominant form;

Prefixed ID : %156580;

Details

Origin ID

156580;

UMLS CUI

C0220693;

Currated CISMeF NLP mapping
- Autosomal dominant primary microcephaly [ORDO Disease]
- Autosomal dominant primary microcephaly (disorder) [SNOMED CT concept]
- Microcephaly autosomal dominant [MeSH concept]
- autosomal dominant microcephaly [DO Concept]
- microcephaly autosomal dominant [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant microcephaly [DO Concept]
HPO term(s)
- Alternating esotropia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad hallux [HPO term]
- Broad phalanges of the thumb [HPO term]
- Broad thumb [HPO term]
- Horizontal nystagmus [HPO term]
- Hypotelorism [HPO term]
- Increased overbite [HPO term]
- Microcephaly [HPO term]
- Prominent ears [HPO term]
- Protruding ear [HPO term]
- Receding, small forehead [HPO term]
- Short stature [HPO term]
- Sloping forehead [HPO term]
- Small forehead [HPO term]
- Upslanted palpebral fissure [HPO term]
ORDO concept(s)
- Autosomal dominant primary microcephaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant primary microcephaly [ORDO Disease]
- Microcephaly autosomal dominant [MeSH concept]
- autosomal dominant microcephaly [DO Concept]
- microcephaly autosomal dominant [MeSH Supplementary Concept]

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