Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies

Preferred Label : Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies;

Symbol : FARIMPD;

Type : Phenotype, molecular basis known;

Prefixed ID : #619602;

Détails

Origin ID

619602;

UMLS CUI

C5562015;

Genes related to phenotype
- Atpase, na+/k+ transporting, alpha-2 polypeptide [OMIM gene]
HPO term(s)
- Abnormal cortical gyration [HPO term]
- Aplasia/Hypoplasia of the pyramidal tract [HPO term]
- Autosomal recessive inheritance [HPO term]
- Fetal akinesia sequence [HPO term]
- Fetal onset [HPO term]
- Inguinal hernia [HPO term]
- Microcephaly [HPO term]
- Neonatal death [HPO term]
- Polyhydramnios [HPO term]
- Polymicrogyria [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

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