Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum

Preferred Label : Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum;

Symbol : AMC4;

CISMeF acronym : AMC4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Zain syndrome; AMCNACC; Arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the SCY1-like protein 2 gene (SCYL2, 616365.0001);

Prefixed ID : #618766;

Details

Origin ID

618766;

UMLS CUI

C5231494;

Genes related to phenotype
- Scy1-like protein 2 [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Areflexia [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bulbous nose [HPO term]
- Cryptorchidism [HPO term]
- Death in childhood [HPO term]
- Death in infancy [HPO term]
- Decreased fetal movement [HPO term]
- Depressed nasal bridge [HPO term]
- Feeding difficulties in infancy [HPO term]
- Frontal cortical atrophy [HPO term]
- Global developmental delay [HPO term]
- Hand clenching [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Narrow mouth [HPO term]
- Optic atrophy [HPO term]
- Parietal cortical atrophy [HPO term]
- Polyhydramnios [HPO term]
- Prominent forehead [HPO term]
- Rocker bottom foot [HPO term]
- Seizure [HPO term]
- Short neck [HPO term]
- Spasticity [HPO term]
- Thin vermilion border [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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