Preferred Label : Neurodevelopmental disorder with brain anomalies and with or without vertebral or
cardiac anomalies;
Symbol : NEDBAVC;
CISMeF acronym : NEDBAVC;
Type : Phenotype, molecular basis known;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the DEAH-box helicase 37 gene (DHX37, 617362.0001);
Prefixed ID : #618731;
Origin ID : 618731;
UMLS CUI : C5231481;
Genes related to phenotype
HPO term(s)
Semantic type(s)