Skraban-deardorff syndrome

Preferred Label : Skraban-deardorff syndrome;

Symbol : SKDEAS;

CISMeF acronym : SKDEAS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Intellectual disability with seizures, abnormal gait, and distinctive facial features;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the WD repeat-containing protein 26 gene (WDR26, 617424.0001);

Prefixed ID : #617616;

Details

Origin ID

617616;

UMLS CUI

C4539927;

Currated CISMeF NLP mapping
- Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome (disorder) [SNOMED CT concept]
- Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome [ORDO Disease]
Genes related to phenotype
- Wd repeat-containing protein 26 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Amblyopia [HPO term]
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad-based gait [HPO term]
- Coarse facial features [HPO term]
- Constipation [HPO term]
- Delayed ability to walk [HPO term]
- Depressed nasal bridge [HPO term]
- Feeding difficulties [HPO term]
- Full cheeks [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Happy demeanor [HPO term]
- Hyperplasia of the maxilla [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Micrognathia [HPO term]
- Recurrent otitis media [HPO term]
- Seizure [HPO term]
- Sparse lateral eyebrow [HPO term]
- Spastic gait [HPO term]
- Strabismus [HPO term]
- Thick upper lip vermilion [HPO term]
- Variable expressivity [HPO term]
- Ventriculomegaly [HPO term]
- Widely spaced teeth [HPO term]
ORDO concept(s)
- Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome [ORDO Disease]
See also inter- (CISMeF)
- WDR26 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome (disorder) [SNOMED CT concept]
- Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome [ORDO Disease]

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