Developmental delay with dysmorphic facies and dental anomalies

Preferred Label : Developmental delay with dysmorphic facies and dental anomalies;

Symbol : DEFDA;

Type : Phenotype, molecular basis known;

Prefixed ID : #619228;

Details

Origin ID

619228;

UMLS CUI

C5543197;

Genes related to phenotype
- Special at-rich sequence-binding protein 1 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Behavioral abnormality [HPO term]
- Delayed speech and language development [HPO term]
- Developmental regression [HPO term]
- Dysarthria [HPO term]
- EEG abnormality [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Motor delay [HPO term]
- Seizure [HPO term]
- Sleep disturbance [HPO term]
- Spasticity [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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