Entry Search - 607694 610060 614258 614366 614381 616494 - OMIM
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Search: '607694 610060 614258 614366 614381 616494 (Search in: MIM number)'
Results: 6 entries.

1:
# 607694. LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD7
Cytogenetic location: 10q22.3
Matching terms: 607694
► Phenotype-Gene Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
10q22.3 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 607694 AR 3 POLR3A 614258
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Leukodystrophy, hypomyelinating - PS312080 - 27 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p34.1 Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy AR 3 619688 RNF220 616136
1q41 Leukodystrophy, hypomyelinating, 15 AR 3 617951 EPRS 138295
1q42.11 Leukodystrophy, hypomyelinating, 18 AR 3 618404 DEGS1 615843
1q42.12 Leukodystrophy, hypomyelinating, 19, transient infantile AD 3 618688 TMEM63A 618685
1q42.12 Leukodystrophy, hypomyelinating, 10 AR 3 616420 PYCR2 616406
1q42.13 Leukodystrophy, hypomyelinating, 2 AR 3 608804 GJC2 608803
2p11.2 Leukodystrophy, hypomyelinating, 27 AR 3 620675 POLR1A 616404
2q21.3 Leukodystrophy, hypomyelinating, 25 AD 3 620243 TMEM163 618978
2q33.1 Leukodystrophy, hypomyelinating, 4 AR 3 612233 HSPD1 118190
3q26.2 Leukodystrophy, hypomyelinating, 22 AD 3 619328 CLDN11 601326
4q24 Leukodystrophy, hypomyelinating, 3 AR 3 260600 AIMP1 603605
5q34 Leukodystrophy, hypomyelinating, 9 AR 3 616140 RARS1 107820
6p21.1 Leukodystrophy, hypomyelinating, 11 AR 3 616494 POLR1C 610060
6p21.1 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia AR 3 620269 SLC35B2 610788
7p22.1 Leukodystrophy, hypomyelinating, 17 AR 3 618006 AIMP2 600859
7p21.3 Leukodystrophy, hypomyelinating, 16 AD 3 617964 TMEM106B 613413
7p15.3 Leukodystrophy, hypomyelinating, 5 AR 3 610532 HYCC1 610531
10q22.3 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism AR 3 607694 POLR3A 614258
11q14.2 Leukodystrophy, hypomyelinating, 13 AR 3 616881 HIKESHI 614908
11q23.3 Leukodystrophy, hypomyelinating, 12 AR 3 616683 VPS11 608549
12q23.3 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism AR 3 614381 POLR3B 614366
13q13.3 Leukodystrophy, hypomyelinating, 14 AR 3 617899 UFM1 610553
13q34 ?Leukodystrophy, hypomyelinating, 24 AD 3 619851 ATP11A 605868
16p13.3 Leukodystrophy, hypomyelinating, 21 AR 3 619310 POLR3K 606007
17q21.2 ?Leukodystrophy, hypomyelinating, 20 AR 3 619071 CNP 123830
19p13.3 Leukodystrophy, hypomyelinating, 6 AD 3 612438 TUBB4A 602662
Xq22.2 Pelizaeus-Merzbacher disease XLR 3 312080 PLP1 300401
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ICD+
SNOMEDCT: 721846006
ICD10CM: G11.5
ORPHA: 137639, 447893, 447896, 77295, 88637
DO: 0060794
▲ Close

2:
* 610060. POLYMERASE I, RNA, SUBUNIT C; POLR1C
Cytogenetic location: 6p21.1, Genomic coordinates (GRCh38): 6:43,517,089-44,461,400
Matching terms: 610060
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
6p21.1 Leukodystrophy, hypomyelinating, 11 616494 AR 3
Treacher Collins syndrome 3 248390 AR 3
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3:
* 614258. POLYMERASE III, RNA, SUBUNIT A; POLR3A
Cytogenetic location: 10q22.3, Genomic coordinates (GRCh38): 10:77,975,149-78,029,515
Matching terms: 614258
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
10q22.3 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 607694 AR 3
Wiedemann-Rautenstrauch syndrome 264090 AR 3
▲ Close
ICD+
SNOMEDCT: 238874008, 721846006
ICD10CM: G11.5
▲ Close

4:
* 614366. POLYMERASE III, RNA, SUBUNIT B; POLR3B
Cytogenetic location: 12q23.3, Genomic coordinates (GRCh38): 12:106,357,748-106,510,198
Matching terms: 614366
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
12q23.3 Charcot-Marie-Tooth disease, demyelinating, type 1I 619742 AD 3
Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 614381 AR 3
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5:
# 614381. LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD8
Cytogenetic location: 12q23.3
Matching terms: 614381
► Phenotype-Gene Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
12q23.3 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 614381 AR 3 POLR3B 614366
▲ Close
Leukodystrophy, hypomyelinating - PS312080 - 27 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p34.1 Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy AR 3 619688 RNF220 616136
1q41 Leukodystrophy, hypomyelinating, 15 AR 3 617951 EPRS 138295
1q42.11 Leukodystrophy, hypomyelinating, 18 AR 3 618404 DEGS1 615843
1q42.12 Leukodystrophy, hypomyelinating, 19, transient infantile AD 3 618688 TMEM63A 618685
1q42.12 Leukodystrophy, hypomyelinating, 10 AR 3 616420 PYCR2 616406
1q42.13 Leukodystrophy, hypomyelinating, 2 AR 3 608804 GJC2 608803
2p11.2 Leukodystrophy, hypomyelinating, 27 AR 3 620675 POLR1A 616404
2q21.3 Leukodystrophy, hypomyelinating, 25 AD 3 620243 TMEM163 618978
2q33.1 Leukodystrophy, hypomyelinating, 4 AR 3 612233 HSPD1 118190
3q26.2 Leukodystrophy, hypomyelinating, 22 AD 3 619328 CLDN11 601326
4q24 Leukodystrophy, hypomyelinating, 3 AR 3 260600 AIMP1 603605
5q34 Leukodystrophy, hypomyelinating, 9 AR 3 616140 RARS1 107820
6p21.1 Leukodystrophy, hypomyelinating, 11 AR 3 616494 POLR1C 610060
6p21.1 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia AR 3 620269 SLC35B2 610788
7p22.1 Leukodystrophy, hypomyelinating, 17 AR 3 618006 AIMP2 600859
7p21.3 Leukodystrophy, hypomyelinating, 16 AD 3 617964 TMEM106B 613413
7p15.3 Leukodystrophy, hypomyelinating, 5 AR 3 610532 HYCC1 610531
10q22.3 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism AR 3 607694 POLR3A 614258
11q14.2 Leukodystrophy, hypomyelinating, 13 AR 3 616881 HIKESHI 614908
11q23.3 Leukodystrophy, hypomyelinating, 12 AR 3 616683 VPS11 608549
12q23.3 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism AR 3 614381 POLR3B 614366
13q13.3 Leukodystrophy, hypomyelinating, 14 AR 3 617899 UFM1 610553
13q34 ?Leukodystrophy, hypomyelinating, 24 AD 3 619851 ATP11A 605868
16p13.3 Leukodystrophy, hypomyelinating, 21 AR 3 619310 POLR3K 606007
17q21.2 ?Leukodystrophy, hypomyelinating, 20 AR 3 619071 CNP 123830
19p13.3 Leukodystrophy, hypomyelinating, 6 AD 3 612438 TUBB4A 602662
Xq22.2 Pelizaeus-Merzbacher disease XLR 3 312080 PLP1 300401
▲ Close
ICD+
ORPHA: 85186, 88637
DO: 0060797
▲ Close

6:
# 616494. LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11
Cytogenetic location: 6p21.1
Matching terms: 616494
► Phenotype-Gene Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
6p21.1 Leukodystrophy, hypomyelinating, 11 616494 AR 3 POLR1C 610060
▲ Close
Leukodystrophy, hypomyelinating - PS312080 - 27 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p34.1 Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy AR 3 619688 RNF220 616136
1q41 Leukodystrophy, hypomyelinating, 15 AR 3 617951 EPRS 138295
1q42.11 Leukodystrophy, hypomyelinating, 18 AR 3 618404 DEGS1 615843
1q42.12 Leukodystrophy, hypomyelinating, 19, transient infantile AD 3 618688 TMEM63A 618685
1q42.12 Leukodystrophy, hypomyelinating, 10 AR 3 616420 PYCR2 616406
1q42.13 Leukodystrophy, hypomyelinating, 2 AR 3 608804 GJC2 608803
2p11.2 Leukodystrophy, hypomyelinating, 27 AR 3 620675 POLR1A 616404
2q21.3 Leukodystrophy, hypomyelinating, 25 AD 3 620243 TMEM163 618978
2q33.1 Leukodystrophy, hypomyelinating, 4 AR 3 612233 HSPD1 118190
3q26.2 Leukodystrophy, hypomyelinating, 22 AD 3 619328 CLDN11 601326
4q24 Leukodystrophy, hypomyelinating, 3 AR 3 260600 AIMP1 603605
5q34 Leukodystrophy, hypomyelinating, 9 AR 3 616140 RARS1 107820
6p21.1 Leukodystrophy, hypomyelinating, 11 AR 3 616494 POLR1C 610060
6p21.1 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia AR 3 620269 SLC35B2 610788
7p22.1 Leukodystrophy, hypomyelinating, 17 AR 3 618006 AIMP2 600859
7p21.3 Leukodystrophy, hypomyelinating, 16 AD 3 617964 TMEM106B 613413
7p15.3 Leukodystrophy, hypomyelinating, 5 AR 3 610532 HYCC1 610531
10q22.3 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism AR 3 607694 POLR3A 614258
11q14.2 Leukodystrophy, hypomyelinating, 13 AR 3 616881 HIKESHI 614908
11q23.3 Leukodystrophy, hypomyelinating, 12 AR 3 616683 VPS11 608549
12q23.3 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism AR 3 614381 POLR3B 614366
13q13.3 Leukodystrophy, hypomyelinating, 14 AR 3 617899 UFM1 610553
13q34 ?Leukodystrophy, hypomyelinating, 24 AD 3 619851 ATP11A 605868
16p13.3 Leukodystrophy, hypomyelinating, 21 AR 3 619310 POLR3K 606007
17q21.2 ?Leukodystrophy, hypomyelinating, 20 AR 3 619071 CNP 123830
19p13.3 Leukodystrophy, hypomyelinating, 6 AD 3 612438 TUBB4A 602662
Xq22.2 Pelizaeus-Merzbacher disease XLR 3 312080 PLP1 300401
▲ Close
ICD+
ORPHA: 88637
DO: 0060792
▲ Close
Search: 607694 610060 614258 614366 614381 616494 (Search in: MIM number)
Results: 6 entries.

1:
# 607694. LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD7
Cytogenetic location: 10q22.3
Matching terms: 607694

2:
* 610060. POLYMERASE I, RNA, SUBUNIT C; POLR1C
Cytogenetic location: 6p21.1, Genomic coordinates (GRCh38): 6:43,517,089-44,461,400
Matching terms: 610060

3:
* 614258. POLYMERASE III, RNA, SUBUNIT A; POLR3A
Cytogenetic location: 10q22.3, Genomic coordinates (GRCh38): 10:77,975,149-78,029,515
Matching terms: 614258

4:
* 614366. POLYMERASE III, RNA, SUBUNIT B; POLR3B
Cytogenetic location: 12q23.3, Genomic coordinates (GRCh38): 12:106,357,748-106,510,198
Matching terms: 614366

5:
# 614381. LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD8
Cytogenetic location: 12q23.3
Matching terms: 614381

6:
# 616494. LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11
Cytogenetic location: 6p21.1
Matching terms: 616494


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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 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® 1966-2024 Johns Hopkins University.
Printed: June 1, 2024