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loading...| Preferred Name |
Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192635 |
| code |
C192635 |
| Concept_In_Subset | |
| Contributing_Source |
Cellosaurus |
| DEFINITION |
An autosomal dominant condition caused by mutations(s) in the CTBP1 gene, encoding C-terminal-binding protein 1. It is characterized by hypotonia, ataxia, developmental delay, and tooth enamel defects. |
| FULL_SYN |
Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome HADDTS |
| label |
Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome |
| Preferred_Name |
Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome |
| prefixIRI |
Thesaurus:C192635 |
| prefLabel |
Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome |
| Semantic_Type |
Disease or Syndrome |
| subClassOf |
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