Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome

Preferred Label : Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome;

Symbol : HADDTS;

CISMeF acronym : HADDTS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the C-terminal-binding protein 1 gene (CTBP1, 602618.0001);

Prefixed ID : #617915;

Details

Origin ID

617915;

UMLS CUI

C4693578;

Currated CISMeF NLP mapping
- Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome [NCIt concept]
Genes related to phenotype
- C-terminal-binding protein 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Deeply set eye [HPO term]
- Delayed speech and language development [HPO term]
- Feeding difficulties [HPO term]
- Frontal bossing [HPO term]
- Gait ataxia [HPO term]
- Generalized hypotonia [HPO term]
- High palate [HPO term]
- Inability to walk [HPO term]
- Intellectual disability [HPO term]
- Motor delay [HPO term]
- Retrognathia [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome [NCIt concept]

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