Entry Search - 101400 601622 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '101400 601622 (Search in: MIM number)'
Results: 2 entries.

1:
* 601622. TWIST FAMILY bHLH TRANSCRIPTION FACTOR 1; TWIST1
Cytogenetic location: 7p21.1, Genomic coordinates (GRCh38): 7:19,113,047-19,117,636
Matching terms: 601622
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
7p21.1 Craniosynostosis 1 123100 AD 3
Robinow-Sorauf syndrome 180750 AD 3
Saethre-Chotzen syndrome with or without eyelid anomalies 101400 AD 3
Sweeney-Cox syndrome 617746 AD 3
ICD+
SNOMEDCT: 83015004

2:
# 101400. SAETHRE-CHOTZEN SYNDROME; SCS
SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED
Cytogenetic locations: 7p21.1, 10q26.13
Matching terms: 101400
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
7p21.1 Saethre-Chotzen syndrome with or without eyelid anomalies 101400 AD 3 TWIST1 601622
10q26.13 Saethre-Chotzen syndrome 101400 AD 3 FGFR2 176943
ICD+
SNOMEDCT: 83015004
ORPHA: 794
DO: 14768
Search: 101400 601622 (Search in: MIM number)
Results: 2 entries.

1:
* 601622. TWIST FAMILY bHLH TRANSCRIPTION FACTOR 1; TWIST1
Cytogenetic location: 7p21.1, Genomic coordinates (GRCh38): 7:19,113,047-19,117,636
Matching terms: 601622

2:
# 101400. SAETHRE-CHOTZEN SYNDROME; SCS
SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED
Cytogenetic locations: 7p21.1, 10q26.13
Matching terms: 101400