Microcephaly, short stature, and limb abnormalities

Preferred Label : Microcephaly, short stature, and limb abnormalities;

Symbol : MISSLA;

CISMeF acronym : MISSLA;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the downstream neighbor of son gene (DONSON, 611428.0001);

Prefixed ID : #617604;

Détails

Origin ID

617604;

UMLS CUI

C4539873;

Currated CISMeF NLP mapping
- Microcephaly-short stature-limb abnormalities syndrome [ORDO Disease]
Genes related to phenotype
- Downstream neighbor of son [OMIM gene]
HPO term(s)
- Abnormal rib morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Congenital onset [HPO term]
- Convex nasal ridge [HPO term]
- Delayed skeletal maturation [HPO term]
- Dislocated radial head [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the radius [HPO term]
- Intellectual disability, mild [HPO term]
- Intrauterine growth retardation [HPO term]
- Mesomelia [HPO term]
- Microcephaly [HPO term]
- Patellar aplasia [HPO term]
- Radioulnar synostosis [HPO term]
- Short metacarpal [HPO term]
- Short stature [HPO term]
- Simplified gyral pattern [HPO term]
- Upslanted palpebral fissure [HPO term]
ORDO concept(s)
- Microcephaly-short stature-limb abnormalities syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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