Entry Search - 136430 613068 - OMIM
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Search: '136430 613068 (Search in: MIM number)'
Results: 2 entries.

1:
* 136430. FOLATE RECEPTOR, ALPHA; FOLR1
Cytogenetic location: 11q13.4, Genomic coordinates (GRCh38): 11:72,189,709-72,196,323
Matching terms: 136430
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
11q13.4 Neurodegeneration due to cerebral folate transport deficiency 613068 AR 3
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ICD+
SNOMEDCT: 711403001
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2:
# 613068. NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY; NCFTD
Cytogenetic location: 11q13.4
Matching terms: 613068
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
11q13.4 Neurodegeneration due to cerebral folate transport deficiency 613068 AR 3 FOLR1 136430
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ICD+
SNOMEDCT: 711403001
ORPHA: 217382
DO: 0050719
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Search: 136430 613068 (Search in: MIM number)
Results: 2 entries.

1:
* 136430. FOLATE RECEPTOR, ALPHA; FOLR1
Cytogenetic location: 11q13.4, Genomic coordinates (GRCh38): 11:72,189,709-72,196,323
Matching terms: 136430

2:
# 613068. NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY; NCFTD
Cytogenetic location: 11q13.4
Matching terms: 613068


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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