Fetal akinesia deformation sequence 2

Preferred Label : Fetal akinesia deformation sequence 2;

Symbol : FADS2;

CISMeF acronym : FADS2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in receptor-associated protein of the synapse, 43kD gene (RAPSN, 601592.0012);

Prefixed ID : #618388;

Details

Origin ID

618388;

UMLS CUI

C4760576;

Automatic exact mappings (from CISMeF team)
- RAPSN wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- fetal akinesia deformation sequence syndrome 2 [DO Concept]
DO Cross reference
- fetal akinesia deformation sequence syndrome 2 [DO Concept]
Genes related to phenotype
- Receptor-associated protein of the synapse, 43-kd [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Broad neck [HPO term]
- Cleft palate [HPO term]
- Cryptorchidism [HPO term]
- Decreased fetal movement [HPO term]
- Downslanted palpebral fissures [HPO term]
- Feeding difficulties in infancy [HPO term]
- Fetal akinesia sequence [HPO term]
- Flexion contracture [HPO term]
- High palate [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Respiratory insufficiency [HPO term]
- Tented upper lip vermilion [HPO term]
- Weak cry [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Fetal akinesia deformation sequence [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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