White-kernohan syndrome

Preferred Label : White-kernohan syndrome;

Symbol : WHIKERS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Global developmental delay, hypotonia, and characteristic facial features;

Prefixed ID : #619426;

Details

Origin ID

619426;

UMLS CUI

C5543635;

Genes related to phenotype
- Dna damage-binding protein 1 [OMIM gene]
HPO term(s)
- Anteriorly placed anus [HPO term]
- Anteverted nares [HPO term]
- Anxiety [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad medial eyebrow [HPO term]
- Childhood onset [HPO term]
- Depressed nasal bridge [HPO term]
- Dysplastic corpus callosum [HPO term]
- Epicanthus [HPO term]
- Epicanthus inversus [HPO term]
- Esodeviation [HPO term]
- Full cheeks [HPO term]
- Gastroesophageal reflux [HPO term]
- Hip dysplasia [HPO term]
- Horizontal eyebrow [HPO term]
- Horseshoe kidney [HPO term]
- Hydronephrosis [HPO term]
- Hydroureter [HPO term]
- Hypotelorism [HPO term]
- Hypothyroidism [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Joint laxity [HPO term]
- Juvenile onset [HPO term]
- Long eyelashes [HPO term]
- Long palpebral fissure [HPO term]
- Low-set ears [HPO term]
- Macrotia [HPO term]
- Metopic synostosis [HPO term]
- Midface retrusion [HPO term]
- Nystagmus [HPO term]
- Obesity [HPO term]
- Obstructive sleep apnea [HPO term]
- Rectovaginal fistula [HPO term]
- Recurrent otitis media [HPO term]
- Retrognathia [HPO term]
- Short nose [HPO term]
- Short palpebral fissure [HPO term]
- Simple ear [HPO term]
- Synophrys [HPO term]
- Telecanthus [HPO term]
- Tented upper lip vermilion [HPO term]
- Thick eyebrow [HPO term]
- Thin upper lip vermilion [HPO term]
- Underdeveloped nasal alae [HPO term]
- Upslanted palpebral fissure [HPO term]
- Wide mouth [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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