MCID: ECT105
MIFTS: 10

Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia

Aliases & Classifications for Ectrodactyly of Lower Limbs, Congenital Heart Defect, and...

MalaCards integrated aliases for Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia:

Name: Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive vs. new dominant mutant


HPO:

31
ectrodactyly of lower limbs, congenital heart defect, and micrognathia:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Summaries for Ectrodactyly of Lower Limbs, Congenital Heart Defect, and...

MalaCards based summary : Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia Affiliated tissues include heart, and related phenotypes are micrognathia and tetralogy of fallot

More information from OMIM: 601348

Related Diseases for Ectrodactyly of Lower Limbs, Congenital Heart Defect, and...

Symptoms & Phenotypes for Ectrodactyly of Lower Limbs, Congenital Heart Defect, and...

Human phenotypes related to Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 micrognathia 31 HP:0000347
2 tetralogy of fallot 31 HP:0001636
3 ventricular septal defect 31 HP:0001629
4 blepharophimosis 31 HP:0000581
5 short palpebral fissure 31 HP:0012745
6 split foot 31 HP:0001839
7 hypoplastic right heart 31 HP:0010954

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Facies:
micrognathia
short palpebral fissures

Limbs:
ectrodactyly of lower limbs

Cardiac:
tetralogy of fallot
ventricular septal defect
hypoplastic right heart
congenital heart defect

Misc:
sporadic cases

Clinical features from OMIM®:

601348 (Updated 20-May-2021)

Drugs & Therapeutics for Ectrodactyly of Lower Limbs, Congenital Heart Defect, and...

Search Clinical Trials , NIH Clinical Center for Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia

Genetic Tests for Ectrodactyly of Lower Limbs, Congenital Heart Defect, and...

Anatomical Context for Ectrodactyly of Lower Limbs, Congenital Heart Defect, and...

MalaCards organs/tissues related to Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia:

40
Heart

Publications for Ectrodactyly of Lower Limbs, Congenital Heart Defect, and...

Articles related to Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia:

# Title Authors PMID Year
1
Ectrodactyly of lower limbs, congenital heart defect and characteristic facies in four unrelated Dutch patients: a new association. 57
8867653 1996
2
Congenital defects of lower limbs and associated malformations: a population based study. 57
8418662 1993

Variations for Ectrodactyly of Lower Limbs, Congenital Heart Defect, and...

Expression for Ectrodactyly of Lower Limbs, Congenital Heart Defect, and...

Search GEO for disease gene expression data for Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia.

Pathways for Ectrodactyly of Lower Limbs, Congenital Heart Defect, and...

GO Terms for Ectrodactyly of Lower Limbs, Congenital Heart Defect, and...

Sources for Ectrodactyly of Lower Limbs, Congenital Heart Defect, and...

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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