MCID: HYP823
MIFTS: 9

Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome

Categories: Genetic diseases

Aliases & Classifications for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect...

MalaCards integrated aliases for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome:

Name: Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome 57 6
Haddts 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
four unrelated patients have been reported (last curated march 2018)


Classifications:



External Ids:

OMIM 57 617915

Summaries for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect...

MalaCards based summary : Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome, is also known as haddts. An important gene associated with Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome is CTBP1 (C-Terminal Binding Protein 1). Affiliated tissues include eye.

Description from OMIM: 617915

Related Diseases for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect...

Symptoms & Phenotypes for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
dysmorphic features (in some patients)
frontal bossing
retrognathia

Head And Neck Mouth:
high-arched palate

Abdomen Gastrointestinal:
feeding difficulties

Neurologic Central Nervous System:
delayed motor development
ataxic gait
inability to walk
intellectual disability, variable (in some patients)
speech delay
more
Head And Neck Eyes:
deep-set eyes

Head And Neck Teeth:
enamel defects
soft enamel
discolored teeth

Muscle Soft Tissue:
hypotonia
nonspecific dystrophic changes


Clinical features from OMIM:

617915

Drugs & Therapeutics for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect...

Search Clinical Trials , NIH Clinical Center for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome

Genetic Tests for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect...

Anatomical Context for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect...

MalaCards organs/tissues related to Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome:

41
Eye

Publications for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect...

Variations for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect...

ClinVar genetic disease variations for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CTBP1 NM_001012614.1(CTBP1): c.991C> T (p.Arg331Trp) single nucleotide variant Pathogenic rs869320802 GRCh38 Chromosome 4, 1213028: 1213028
2 CTBP1 NM_001012614.1(CTBP1): c.991C> T (p.Arg331Trp) single nucleotide variant Pathogenic rs869320802 GRCh37 Chromosome 4, 1206816: 1206816

Expression for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect...

Search GEO for disease gene expression data for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome.

Pathways for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect...

GO Terms for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect...

Sources for Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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37 KEGG
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40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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