Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures

Preferred Label : Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;

Symbol : NEDHLSS;

Type : Phenotype, molecular basis known;

Prefixed ID : #620029;

Details

Origin ID

620029;

UMLS CUI

C5774213;

Genes related to phenotype
- Calcium channel, voltage-dependent, L type, alpha-1c subunit [OMIM gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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