Entry Search - 600430 605314 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '600430 605314 (Search in: MIM number)'
Results: 2 entries.

1:
* 605314. HISTONE DEACETYLASE 4; HDAC4
Cytogenetic location: 2q37.3, Genomic coordinates (GRCh38): 2:239,048,168-239,401,649
Matching terms: 605314
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
2q37.3 Neurodevelopmental disorder with central hypotonia and dysmorphic facies 619797 AD 3
▲ Close

2:
# 600430. CHROMOSOME 2q37 DELETION SYNDROME
Cytogenetic location: 2q37, Genomic coordinates (GRCh38): 2:230,100,001-242,193,529
Matching terms: 600430
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
2q37 Chromosome 2q37 deletion syndrome 600430 AD 4
▲ Close
ICD+
SNOMEDCT: 702357000
ORPHA: 1001
DO: 0111704
▲ Close
Search: 600430 605314 (Search in: MIM number)
Results: 2 entries.

1:
* 605314. HISTONE DEACETYLASE 4; HDAC4
Cytogenetic location: 2q37.3, Genomic coordinates (GRCh38): 2:239,048,168-239,401,649
Matching terms: 605314

2:
# 600430. CHROMOSOME 2q37 DELETION SYNDROME
Cytogenetic location: 2q37, Genomic coordinates (GRCh38): 2:230,100,001-242,193,529
Matching terms: 600430


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.

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 13, 2025