Entry Search - 125370 607462 - OMIM
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Search: '125370 607462 (Search in: MIM number)'
Results: 2 entries.

1:
* 607462. ATROPHIN 1; ATN1
Cytogenetic location: 12p13.31, Genomic coordinates (GRCh38): 12:6,924,459-6,942,321
Matching terms: 607462
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
12p13.31 Congenital hypotonia, epilepsy, developmental delay, and digital anomalies 618494 AD 3
Dentatorubral-pallidoluysian atrophy 125370 AD 3
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ICD+
SNOMEDCT: 68116008
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2:
# 125370. DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA
Cytogenetic location: 12p13.31
Matching terms: 125370
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
12p13.31 Dentatorubral-pallidoluysian atrophy 125370 AD 3 ATN1 607462
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ICD+
SNOMEDCT: 68116008
ORPHA: 101
DO: 0060162
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Search: 125370 607462 (Search in: MIM number)
Results: 2 entries.

1:
* 607462. ATROPHIN 1; ATN1
Cytogenetic location: 12p13.31, Genomic coordinates (GRCh38): 12:6,924,459-6,942,321
Matching terms: 607462

2:
# 125370. DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA
Cytogenetic location: 12p13.31
Matching terms: 125370


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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