Preferred Label : Immunoskeletal dysplasia with neurodevelopmental abnormalities;
Symbol : ISDNA;
CISMeF acronym : ISDNA;
Type : Phenotype, molecular basis known;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the exostosin-like glycosyltransferase 3 gene (EXTL3, 605744.0001);
Prefixed ID : #617425;
Origin ID : 617425;
UMLS CUI : C4479452;
- Genes related to phenotype
- HPO term(s)
- Semantic type(s)