Congenital hypotonia, epilepsy, developmental delay, and digital anomalies

Preferred Label : Congenital hypotonia, epilepsy, developmental delay, and digital anomalies;

Symbol : CHEDDA;

CISMeF acronym : CHEDDA;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the atrophin 1 gene (ATN1, 607462.0002);

Prefixed ID : #618494;

Details

Origin ID

618494;

UMLS CUI

C5193125;

Genes related to phenotype
- Atrophin 1 [OMIM gene]
HPO term(s)
- Abnormal cardiac septum morphology [HPO term]
- Abnormal heart morphology [HPO term]
- Anteriorly placed anus [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brain imaging abnormality [HPO term]
- Bulbous nose [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Cerebral atrophy [HPO term]
- Cerebral visual impairment [HPO term]
- Cleft palate [HPO term]
- Congenital onset [HPO term]
- Constipation [HPO term]
- Cryptorchidism [HPO term]
- Deeply set eye [HPO term]
- Dysphagia [HPO term]
- Epicanthus [HPO term]
- Gastroesophageal reflux [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- High forehead [HPO term]
- High, narrow palate [HPO term]
- Hip dysplasia [HPO term]
- Hydronephrosis [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Inability to walk [HPO term]
- Inverted nipples [HPO term]
- Joint hypermobility [HPO term]
- Long philtrum [HPO term]
- Low hanging columella [HPO term]
- Low-set ears [HPO term]
- Narrow forehead [HPO term]
- Nonprogressive [HPO term]
- Obstructive sleep apnea [HPO term]
- Open mouth [HPO term]
- Overhanging nasal tip [HPO term]
- Overlapping fingers [HPO term]
- Overlapping toe [HPO term]
- Polymicrogyria [HPO term]
- Posteriorly rotated ears [HPO term]
- Recurrent otitis media [HPO term]
- Renal agenesis [HPO term]
- Renal hypoplasia [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Thin upper lip vermilion [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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