Delpire-mcneill syndrome - CISMeF

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CISMeF

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Delpire-mcneill syndromeOMIM Phenotype

Preferred Label : Delpire-mcneill syndrome;

Symbol : DELMNES;

Type : Phenotype, molecular basis known;

Prefixed ID : #619083;

Details

Origin ID

619083;

UMLS CUI

C5436771;

Genes related to phenotype
- Solute carrier family 12 (sodium/potassium/chloride transporter), member 2 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Agenesis of corpus callosum [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral sensorineural hearing impairment [HPO term]
- Cortical dysplasia [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Dysphagia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hip dislocation [HPO term]
- Hypertonia [HPO term]
- Spasticity [HPO term]
- Tracheoesophageal fistula [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Non-specific syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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01/06/2025

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