MCID: HYP812
MIFTS: 6

Hypotonia, Seizures, and Precocious Puberty

Aliases & Classifications for Hypotonia, Seizures, and Precocious Puberty

MalaCards integrated aliases for Hypotonia, Seizures, and Precocious Puberty:

Name: Hypotonia, Seizures, and Precocious Puberty 57

External Ids:

OMIM® 57 612777
MedGen 41 C2748586

Summaries for Hypotonia, Seizures, and Precocious Puberty

MalaCards based summary : Hypotonia, Seizures, and Precocious Puberty is related to precocious puberty and hypotonia. An important gene associated with Hypotonia, Seizures, and Precocious Puberty is TBCK (TBC1 Domain Containing Kinase).

More information from OMIM: 612777

Related Diseases for Hypotonia, Seizures, and Precocious Puberty

Diseases related to Hypotonia, Seizures, and Precocious Puberty via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 precocious puberty 10.2
2 hypotonia 10.2
3 seizure disorder 10.2

Symptoms & Phenotypes for Hypotonia, Seizures, and Precocious Puberty

Clinical features from OMIM®:

612777 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hypotonia, Seizures, and Precocious Puberty

Search Clinical Trials , NIH Clinical Center for Hypotonia, Seizures, and Precocious Puberty

Genetic Tests for Hypotonia, Seizures, and Precocious Puberty

Anatomical Context for Hypotonia, Seizures, and Precocious Puberty

Publications for Hypotonia, Seizures, and Precocious Puberty

Articles related to Hypotonia, Seizures, and Precocious Puberty:

# Title Authors PMID Year
1
A familial dysmorphic condition with hypotonia, seizures and precocious puberty. 57 61
18541960 2008

Variations for Hypotonia, Seizures, and Precocious Puberty

Expression for Hypotonia, Seizures, and Precocious Puberty

Search GEO for disease gene expression data for Hypotonia, Seizures, and Precocious Puberty.

Pathways for Hypotonia, Seizures, and Precocious Puberty

GO Terms for Hypotonia, Seizures, and Precocious Puberty

Sources for Hypotonia, Seizures, and Precocious Puberty

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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