Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures

Preferred Label : Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures;

Symbol : NEDFSS;

Type : Phenotype, molecular basis known;

Prefixed ID : #620224;

Details

Origin ID

620224;

UMLS CUI

C5830244;

Genes related to phenotype
- Transient receptor potential cation channel, subfamily M, member 3 [OMIM gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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