Entry Search - 225753 277470 608755 610204 - OMIM
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Search: '225753 277470 608755 610204 (Search in: MIM number)'
Results: 4 entries.

1:
* 608755. tRNA SPLICING ENDONUCLEASE, SUBUNIT 54; TSEN54
Cytogenetic location: 17q25.1, Genomic coordinates (GRCh38): 17:75,516,528-75,524,735
Matching terms: 608755
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
17q25.1 ?Pontocerebellar hypoplasia type 5 610204 AR 3
Pontocerebellar hypoplasia type 2A 277470 AR 3
Pontocerebellar hypoplasia type 4 225753 AR 3
▲ Close
ICD+
SNOMEDCT: 718607001, 718608006
▲ Close

2:
# 610204. PONTOCEREBELLAR HYPOPLASIA, TYPE 5; PCH5
Cytogenetic location: 17q25.1
Matching terms: 610204
► 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
17q25.1 ?Pontocerebellar hypoplasia type 5 610204 AR 3 TSEN54 608755
▲ Close
Pontocerebellar hypoplasia - PS607596 - 27 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p34.1 Pontocerebellar hypoplasia, type 7 AR 3 614969 TOE1 613931
1p13.3 Pontocerebellar hypoplasia, type 9 AR 3 615809 AMPD2 102771
1q25.3 Pontocerebellar hypoplasia, type 2F AR 3 617026 TSEN15 608756
3p25.2 Pontocerebellar hypoplasia type 2B AR 3 612389 TSEN2 608753
3q12.1-q12.2 Pontocerebellar hypoplasia, type 11 AR 3 617695 TBC1D23 617687
4p15.2 Pontocerebellar hypoplasia type 2D AR 3 613811 SEPSECS 613009
4q27 Pontocerebellar hypoplasia, type 1D AR 3 618065 EXOSC9 606180
5q22.1 Pontocerebellar hypoplasia, type 1E AR 3 619303 SLC25A46 610826
6p21.2 Pontocerebellar hypoplasia, type 14 AR 3 619301 PPIL1 601301
6q15 Pontocerebellar hypoplasia, type 6 AR 3 611523 RARS2 611524
6q16.2 Pontocerebellar hypoplasia, type 17 AR 3 619909 PRDM13 616741
6q21 ?Pontocerebellar hypoplasia, type 15 AR 3 619302 CDC40 605585
7q21.11 Pontocerebellar hypoplasia, type 3 AR 3 608027 PCLO 604918
9p13.2 Pontocerebellar hypoplasia, type 1B AR 3 614678 EXOSC3 606489
10q23.2 Pontocerebellar hypoplasia, type 16 AR 3 619527 MINPP1 605391
10q24.1 ?Pontocerebellar hypoplasia, type 1F AR 3 619304 EXOSC1 606493
11q12.1 Pontocerebellar hypoplasia, type 10 AR 3 615803 CLP1 608757
11q13.1 Pontocerebellar hypoplasia, type 13 AR 3 618606 VPS51 615738
13q13.3 Pontocerebellar hypoplasia, type 1C AR 3 616081 EXOSC8 606019
14q32.2 Pontocerebellar hypoplasia type 1A AR 3 607596 VRK1 602168
16q24.3 Pontocerebellar hypoplasia, type 8 AR 3 614961 CHMP1A 164010
17p13.3 Pontocerebellar hypoplasia, type 2E AR 3 615851 VPS53 615850
17q21.2 Pontocerebellar hypoplasia, type 12 AR 3 618266 COASY 609855
17q25.1 Pontocerebellar hypoplasia type 2A AR 3 277470 TSEN54 608755
17q25.1 ?Pontocerebellar hypoplasia type 5 AR 3 610204 TSEN54 608755
17q25.1 Pontocerebellar hypoplasia type 4 AR 3 225753 TSEN54 608755
19q13.42 ?Pontocerebellar hypoplasia type 2C AR 3 612390 TSEN34 608754
▲ Close
ICD+
SNOMEDCT: 718607001
ORPHA: 166068
DO: 0060274
▲ Close

3:
# 277470. PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A
Cytogenetic location: 17q25.1
Matching terms: 277470
► 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
17q25.1 Pontocerebellar hypoplasia type 2A 277470 AR 3 TSEN54 608755
▲ Close
Pontocerebellar hypoplasia - PS607596 - 27 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p34.1 Pontocerebellar hypoplasia, type 7 AR 3 614969 TOE1 613931
1p13.3 Pontocerebellar hypoplasia, type 9 AR 3 615809 AMPD2 102771
1q25.3 Pontocerebellar hypoplasia, type 2F AR 3 617026 TSEN15 608756
3p25.2 Pontocerebellar hypoplasia type 2B AR 3 612389 TSEN2 608753
3q12.1-q12.2 Pontocerebellar hypoplasia, type 11 AR 3 617695 TBC1D23 617687
4p15.2 Pontocerebellar hypoplasia type 2D AR 3 613811 SEPSECS 613009
4q27 Pontocerebellar hypoplasia, type 1D AR 3 618065 EXOSC9 606180
5q22.1 Pontocerebellar hypoplasia, type 1E AR 3 619303 SLC25A46 610826
6p21.2 Pontocerebellar hypoplasia, type 14 AR 3 619301 PPIL1 601301
6q15 Pontocerebellar hypoplasia, type 6 AR 3 611523 RARS2 611524
6q16.2 Pontocerebellar hypoplasia, type 17 AR 3 619909 PRDM13 616741
6q21 ?Pontocerebellar hypoplasia, type 15 AR 3 619302 CDC40 605585
7q21.11 Pontocerebellar hypoplasia, type 3 AR 3 608027 PCLO 604918
9p13.2 Pontocerebellar hypoplasia, type 1B AR 3 614678 EXOSC3 606489
10q23.2 Pontocerebellar hypoplasia, type 16 AR 3 619527 MINPP1 605391
10q24.1 ?Pontocerebellar hypoplasia, type 1F AR 3 619304 EXOSC1 606493
11q12.1 Pontocerebellar hypoplasia, type 10 AR 3 615803 CLP1 608757
11q13.1 Pontocerebellar hypoplasia, type 13 AR 3 618606 VPS51 615738
13q13.3 Pontocerebellar hypoplasia, type 1C AR 3 616081 EXOSC8 606019
14q32.2 Pontocerebellar hypoplasia type 1A AR 3 607596 VRK1 602168
16q24.3 Pontocerebellar hypoplasia, type 8 AR 3 614961 CHMP1A 164010
17p13.3 Pontocerebellar hypoplasia, type 2E AR 3 615851 VPS53 615850
17q21.2 Pontocerebellar hypoplasia, type 12 AR 3 618266 COASY 609855
17q25.1 Pontocerebellar hypoplasia type 2A AR 3 277470 TSEN54 608755
17q25.1 ?Pontocerebellar hypoplasia type 5 AR 3 610204 TSEN54 608755
17q25.1 Pontocerebellar hypoplasia type 4 AR 3 225753 TSEN54 608755
19q13.42 ?Pontocerebellar hypoplasia type 2C AR 3 612390 TSEN34 608754
▲ Close
ICD+
ORPHA: 2524
DO: 0060267
▲ Close

4:
# 225753. PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4
Cytogenetic location: 17q25.1
Matching terms: 225753
► 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
17q25.1 Pontocerebellar hypoplasia type 4 225753 AR 3 TSEN54 608755
▲ Close
Pontocerebellar hypoplasia - PS607596 - 27 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p34.1 Pontocerebellar hypoplasia, type 7 AR 3 614969 TOE1 613931
1p13.3 Pontocerebellar hypoplasia, type 9 AR 3 615809 AMPD2 102771
1q25.3 Pontocerebellar hypoplasia, type 2F AR 3 617026 TSEN15 608756
3p25.2 Pontocerebellar hypoplasia type 2B AR 3 612389 TSEN2 608753
3q12.1-q12.2 Pontocerebellar hypoplasia, type 11 AR 3 617695 TBC1D23 617687
4p15.2 Pontocerebellar hypoplasia type 2D AR 3 613811 SEPSECS 613009
4q27 Pontocerebellar hypoplasia, type 1D AR 3 618065 EXOSC9 606180
5q22.1 Pontocerebellar hypoplasia, type 1E AR 3 619303 SLC25A46 610826
6p21.2 Pontocerebellar hypoplasia, type 14 AR 3 619301 PPIL1 601301
6q15 Pontocerebellar hypoplasia, type 6 AR 3 611523 RARS2 611524
6q16.2 Pontocerebellar hypoplasia, type 17 AR 3 619909 PRDM13 616741
6q21 ?Pontocerebellar hypoplasia, type 15 AR 3 619302 CDC40 605585
7q21.11 Pontocerebellar hypoplasia, type 3 AR 3 608027 PCLO 604918
9p13.2 Pontocerebellar hypoplasia, type 1B AR 3 614678 EXOSC3 606489
10q23.2 Pontocerebellar hypoplasia, type 16 AR 3 619527 MINPP1 605391
10q24.1 ?Pontocerebellar hypoplasia, type 1F AR 3 619304 EXOSC1 606493
11q12.1 Pontocerebellar hypoplasia, type 10 AR 3 615803 CLP1 608757
11q13.1 Pontocerebellar hypoplasia, type 13 AR 3 618606 VPS51 615738
13q13.3 Pontocerebellar hypoplasia, type 1C AR 3 616081 EXOSC8 606019
14q32.2 Pontocerebellar hypoplasia type 1A AR 3 607596 VRK1 602168
16q24.3 Pontocerebellar hypoplasia, type 8 AR 3 614961 CHMP1A 164010
17p13.3 Pontocerebellar hypoplasia, type 2E AR 3 615851 VPS53 615850
17q21.2 Pontocerebellar hypoplasia, type 12 AR 3 618266 COASY 609855
17q25.1 Pontocerebellar hypoplasia type 2A AR 3 277470 TSEN54 608755
17q25.1 ?Pontocerebellar hypoplasia type 5 AR 3 610204 TSEN54 608755
17q25.1 Pontocerebellar hypoplasia type 4 AR 3 225753 TSEN54 608755
19q13.42 ?Pontocerebellar hypoplasia type 2C AR 3 612390 TSEN34 608754
▲ Close
ICD+
SNOMEDCT: 718608006
ORPHA: 166063
DO: 0060273
▲ Close
Search: 225753 277470 608755 610204 (Search in: MIM number)
Results: 4 entries.

1:
* 608755. tRNA SPLICING ENDONUCLEASE, SUBUNIT 54; TSEN54
Cytogenetic location: 17q25.1, Genomic coordinates (GRCh38): 17:75,516,528-75,524,735
Matching terms: 608755

2:
# 610204. PONTOCEREBELLAR HYPOPLASIA, TYPE 5; PCH5
Cytogenetic location: 17q25.1
Matching terms: 610204

3:
# 277470. PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A
Cytogenetic location: 17q25.1
Matching terms: 277470

4:
# 225753. PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4
Cytogenetic location: 17q25.1
Matching terms: 225753


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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