Entry Search - 602272 610954 - OMIM
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Search: '602272 610954 (Search in: MIM number)'
Results: 2 entries.

1:
* 602272. TRANSCRIPTION FACTOR 4; TCF4
Cytogenetic location: 18q21.2, Genomic coordinates (GRCh38): 18:55,222,185-55,635,957
Matching terms: 602272
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
18q21.2 Corneal dystrophy, Fuchs endothelial, 3 613267 AD 3
Pitt-Hopkins syndrome 610954 AD 3
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ICD+
SNOMEDCT: 702344008
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2:
# 610954. PITT-HOPKINS SYNDROME; PTHS
Cytogenetic location: 18q21.2
Matching terms: 610954
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
18q21.2 Pitt-Hopkins syndrome 610954 AD 3 TCF4 602272
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ICD+
SNOMEDCT: 702344008
ORPHA: 2896
DO: 0060488
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Search: 602272 610954 (Search in: MIM number)
Results: 2 entries.

1:
* 602272. TRANSCRIPTION FACTOR 4; TCF4
Cytogenetic location: 18q21.2, Genomic coordinates (GRCh38): 18:55,222,185-55,635,957
Matching terms: 602272

2:
# 610954. PITT-HOPKINS SYNDROME; PTHS
Cytogenetic location: 18q21.2
Matching terms: 610954


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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.
Printed: March 5, 2025