HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME

HADDTS

http://purl.bioontology.org/ontology/OMIM/617915

HADDTS

C4693578

4p16

HADDTS

CTBP1

http://purl.bioontology.org/ontology/OMIM/MTHU002677

http://purl.bioontology.org/ontology/OMIM/MTHU000379

http://purl.bioontology.org/ontology/OMIM/MTHU038228

http://purl.bioontology.org/ontology/OMIM/MTHU000512

http://purl.bioontology.org/ontology/OMIM/MTHU003860

http://purl.bioontology.org/ontology/OMIM/MTHU026456

http://purl.bioontology.org/ontology/OMIM/MTHU060916

http://purl.bioontology.org/ontology/OMIM/MTHU001172

http://purl.bioontology.org/ontology/OMIM/MTHU037423

http://purl.bioontology.org/ontology/OMIM/MTHU000655

http://purl.bioontology.org/ontology/OMIM/MTHU049324

http://purl.bioontology.org/ontology/OMIM/MTHU036555

http://purl.bioontology.org/ontology/OMIM/MTHU003093

http://purl.bioontology.org/ontology/OMIM/MTHU001721

http://purl.bioontology.org/ontology/OMIM/MTHU033938

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU000136

Phenotype description, molecular basis known.

617915

3

pound

HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME

Caused by mutation in the C-terminal-binding protein 1 gene (CTBP1, 602618.0001) [MOLECULAR BASIS]

Variable phenotype [MISCELLANEOUS]

Four unrelated patients have been reported (last curated March 2018) [MISCELLANEOUS]

T047