Okur-chung neurodevelopmental syndrome

Preferred Label : Okur-chung neurodevelopmental syndrome;

Symbol : OCNDS;

CISMeF acronym : OCNDS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the casein kinase II, alpha-1 gene (CSNK2A1, 115440.0001).;

Prefixed ID : #617062;

Details

Origin ID

617062;

UMLS CUI

C4310739;

Genes related to phenotype
- Casein kinase II, alpha-1 [OMIM gene]
HPO term(s)
- Abnormal heart morphology [HPO term]
- Absent speech [HPO term]
- Anteverted nares [HPO term]
- Atonic seizure [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal dominant inheritance [HPO term]
- Behavioral abnormality [HPO term]
- Brachydactyly [HPO term]
- Clinodactyly [HPO term]
- Constipation [HPO term]
- Decreased circulating IgA level [HPO term]
- Decreased circulating IgG level [HPO term]
- Decreased circulating antibody level [HPO term]
- Delayed speech and language development [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Highly arched eyebrow [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Joint hypermobility [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Pachygyria [HPO term]
- Ptosis [HPO term]
- Scoliosis [HPO term]
- Simplified gyral pattern [HPO term]
- Synophrys [HPO term]
- Thin upper lip vermilion [HPO term]
- Wide nasal bridge [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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