Entry Search - 128200 602066 605751 614386 - OMIM
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Search: '128200 602066 605751 614386 (Search in: MIM number)'
Results: 4 entries.

1:
* 614386. PROLINE-RICH TRANSMEMBRANE PROTEIN 2; PRRT2
Cytogenetic location: 16p11.2, Genomic coordinates (GRCh38): 16:29,812,193-29,815,881
Matching terms: 614386
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
16p11.2 Convulsions, familial infantile, with paroxysmal choreoathetosis 602066 AD 3
Episodic kinesigenic dyskinesia 1 128200 AD 3
Seizures, benign familial infantile, 2 605751 AD 3
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ICD+
SNOMEDCT: 715534008
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2:
# 602066. CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; ICCA
Cytogenetic location: 16p11.2
Matching terms: 602066
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
16p11.2 Convulsions, familial infantile, with paroxysmal choreoathetosis 602066 AD 3 PRRT2 614386
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ICD+
SNOMEDCT: 715534008
ORPHA: 31709
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3:
# 605751. SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2
Cytogenetic location: 16p11.2
Matching terms: 605751
► 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
16p11.2 Seizures, benign familial infantile, 2 605751 AD 3 PRRT2 614386
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ICD+
ORPHA: 306
DO: 0081115
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4:
# 128200. EPISODIC KINESIGENIC DYSKINESIA 1; EKD1
Cytogenetic location: 16p11.2
Matching terms: 128200
► 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
16p11.2 Episodic kinesigenic dyskinesia 1 128200 AD 3 PRRT2 614386
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Dystonia - PS128100 - 37 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p36.32-p36.13 Dystonia 13, torsion AD 2 607671 DYT13 607671
1p35.3 Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities AR 3 617282 MECR 608205
1p35.1 Dystonia 2, torsion, autosomal recessive AR 3 224500 HPCA 142622
1p34.2 GLUT1 deficiency syndrome 2, childhood onset AD 3 612126 SLC2A1 138140
1p34.2 Dystonia 9 AD 3 601042 SLC2A1 138140
2p22.2 Dystonia 33 AD, AR 3 619687 EIF2AK2 176871
2q14.3-q21.3 Dystonia 21 AD 2 614588 DYT21 614588
2q31 Paroxysmal nonkinesigenic dyskinesia 2 AD 2 611147 PNKD2 611147
2q31.2 Dystonia 16 AR 3 612067 PRKRA 603424
2q35 Paroxysmal nonkinesigenic dyskinesia 1 AD 3 118800 PNKD 609023
2q37.3 Dystonia 27 AR 3 616411 COL6A3 120250
3p13 ?Dystonia 35, childhood-onset AR 3 619921 SHQ1 613663
4q21.1 Dystonia 37, early-onset, with striatal lesions AR 3 620427 NUP54 607607
5q22.3 ?Dystonia 34, myoclonic AD 3 619724 KCNN2 605879
7q21.3 Dystonia-11, myoclonic AD 3 159900 SGCE 604149
8p11.21 Dystonia 6, torsion AD 3 602629 THAP1 609520
9q22.32 Dystonia 31 AR 3 619565 AOPEP 619600
9q34 Dystonia 23 AD 2 614860 DYT23 614860
9q34.11 Dystonia-1, torsion AD 3 128100 TOR1A 605204
11p14.3-p14.2 Dystonia 24 AD 3 615034 ANO3 610110
11q13.2 Episodic kinesigenic dyskinesia 3 AD 3 620245 TMEM151A 620108
11q23.3 ?Dystonia 32 AR 3 619637 VPS11 608549
14q22.2 Dystonia, DOPA-responsive AD, AR 3 128230 GCH1 600225
16p11.2 Episodic kinesigenic dyskinesia 1 AD 3 128200 PRRT2 614386
16q13-q22.1 Episodic kinesigenic dyskinesia 2 AD 2 611031 EKD2 611031
17q22 ?Dystonia 22, adult-onset AR 3 620456 TSPOAP1 610764
17q22 Dystonia 22, juvenile-onset AR 3 620453 TSPOAP1 610764
18p11 Dystonia-15, myoclonic AD 2 607488 DYT15 607488
18p Dystonia-7, torsion AD 2 602124 DYT7 602124
18p11.21 Dystonia 25 AD 3 615073 GNAL 139312
19p13.3 Dystonia 4, torsion, autosomal dominant AD 3 128101 TUBB4A 602662
19q13.12 Dystonia 28, childhood-onset AD 3 617284 KMT2B 606834
19q13.2 Dystonia-12 AD 3 128235 ATP1A3 182350
20p13 Dystonia 30 AD 3 619291 VPS16 608550
20p11.2-q13.12 Dystonia-17, primary torsion AR 2 612406 DYT17 612406
22q12.3 Dystonia 26, myoclonic AD 3 616398 KCTD17 616386
Xq13.1 Dystonia-Parkinsonism, X-linked XLR 3 314250 TAF1 313650
Episodic kinesigenic dyskinesia - PS128200 - 3 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
11q13.2 Episodic kinesigenic dyskinesia 3 AD 3 620245 TMEM151A 620108
16p11.2 Episodic kinesigenic dyskinesia 1 AD 3 128200 PRRT2 614386
16q13-q22.1 Episodic kinesigenic dyskinesia 2 AD 2 611031 EKD2 611031
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ICD+
SNOMEDCT: 609221008
ORPHA: 98809
DO: 0090053
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Search: 128200 602066 605751 614386 (Search in: MIM number)
Results: 4 entries.

1:
* 614386. PROLINE-RICH TRANSMEMBRANE PROTEIN 2; PRRT2
Cytogenetic location: 16p11.2, Genomic coordinates (GRCh38): 16:29,812,193-29,815,881
Matching terms: 614386

2:
# 602066. CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; ICCA
Cytogenetic location: 16p11.2
Matching terms: 602066

3:
# 605751. SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2
Cytogenetic location: 16p11.2
Matching terms: 605751

4:
# 128200. EPISODIC KINESIGENIC DYSKINESIA 1; EKD1
Cytogenetic location: 16p11.2
Matching terms: 128200


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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