Entry Search - 213300 243910 300170 300804 602676 604557 607100 607386 608091 608629 608894 608922 609583 609863 609883 609884 610142 610178 610188 610523 610688 610937 611254 611560 611654 611951 612013 612014 612285 612291 613037 613277 613446 613820 613846 613847 614144 614173 614423 614424 614459 614464 614465 614571 614615 614784 614815 614844 614949 614970 615636 615665 615944 616183 616490 616650 616654 616690 616781 616784 617120 617121 617761 - OMIM
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Search: '213300 243910 300170 300804 602676 604557 607100 607386 608091 608629 608894 608922 609583 609863 609883 609884 610142 610178 610188 610523 610688 610937 611254 611560 611654 611951 612013 612014 612285 612291 613037 613277 613446 613820 613846 613847 614144 614173 614423 614424 614459 614464 614465 614571 614615 614784 614815 614844 614949 614970 615636 615665 615944 616183 616490 616650 616654 616690 616781 616784 617120 617121 617761 (Search in: MIM number)'
Results: 63 entries.
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1:
* 300170. OFD1 CENTRIOLE AND CENTRIOLAR SATELLITE PROTEIN; OFD1
Cytogenetic location: Xp22.2, Genomic coordinates (GRCh38): X:13,714,505-13,773,738
Matching terms: 300170
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
Xp22.2 ?Retinitis pigmentosa 23 300424 XLR 3
Joubert syndrome 10 300804 XLR 3
Orofaciodigital syndrome I 311200 XLD 3
Simpson-Golabi-Behmel syndrome, type 2 300209 XLR 3
▲ Close
ICD+
SNOMEDCT: 403773005, 763833006
▲ Close

2:
# 300804. JOUBERT SYNDROME 10; JBTS10
Cytogenetic location: Xp22.2
Matching terms: 300804
► 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
Xp22.2 Joubert syndrome 10 300804 XLR 3 OFD1 300170
▲ Close
Joubert syndrome - PS213300 - 43 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p36.32 Joubert syndrome 25 AR 3 616781 CEP104 616690
2q13 Joubert syndrome 4 AR 3 609583 NPHP1 607100
2q33.1 Joubert syndrome 14 AR 3 614424 TMEM237 614423
2q37.1 Joubert syndrome 30 AR 3 617622 ARMC9 617612
2q37.1 Joubert syndrome 22 AR 3 615665 PDE6D 602676
3q11.1-q11.2 Joubert syndrome 8 AR 3 612291 ARL13B 608922
4p15.32 Joubert syndrome 9 AR 3 612285 CC2D2A 612013
5p13.2 Joubert syndrome 17 AR 3 614615 CPLANE1 614571
5q23.2 Joubert syndrome 31 AR 3 617761 CEP120 613446
6q23.3 Joubert syndrome 3 AR 3 608629 AHI1 608894
7q32.2 Joubert syndrome 15 AR 3 614464 CEP41 610523
8q13.1-q13.2 Joubert syndrome 21 AR 3 615636 CSPP1 611654
8q22.1 Joubert syndrome 6 AR 3 610688 TMEM67 609884
9p21.2 Joubert syndrome 40 AR 3 619582 IFT74 608040
9q34.3 Joubert syndrome 1 AR 3 213300 INPP5E 613037
10q22.2 Joubert syndrome 36 AR 3 618763 FAM149B1 618413
10q24.1 Joubert syndrome 18 AR 3 614815 TCTN3 613847
10q24.32 Joubert syndrome 32 AR 3 617757 SUFU 607035
10q24.32 Joubert syndrome 35 AR 3 618161 ARL3 604695
11q12.2 Joubert syndrome 16 AR 3 614465 TMEM138 614459
11q12.2 Joubert syndrome 2 AR 3 608091 TMEM216 613277
11q24.2 Joubert syndrome 39 AR 3 619562 TMEM218 619285
12q21.32 Joubert syndrome 5 AR 3 610188 CEP290 610142
12q24.11 Joubert syndrome 13 AR 3 614173 TCTN1 609863
12q24.31 Joubert syndrome 24 AR 3 616654 TCTN2 613846
13q21.33-q22.1 Joubert syndrome 33 AR 3 617767 PIBF1 607532
14q21.2 Joubert syndrome 37 AR 3 619185 TOGARAM1 617618
14q23.1 Joubert syndrome 23 AR 3 616490 KIAA0586 610178
15q26.1 Acrocallosal syndrome AR 3 200990 KIF7 611254
15q26.1 Joubert syndrome 12 AR 3 200990 KIF7 611254
16p12.1 Joubert syndrome 26 AR 3 616784 KATNIP 616650
16q12.1 Joubert syndrome 19 AD, AR 3 614844 ZNF423 604557
16q12.1 Nephronophthisis 14 AD, AR 3 614844 ZNF423 604557
16q12.2 Joubert syndrome 7 AR 3 611560 RPGRIP1L 610937
16q23.1 Joubert syndrome 20 AR 3 614970 TMEM231 614949
17p13.1 ?Joubert syndrome 38 AR 3 619476 KIAA0753 617112
17p13.1 ?Joubert syndrome 29 AR 3 617562 TMEM107 616183
17p13.1 Meckel syndrome 13 AR 3 617562 TMEM107 616183
17p11.2 Joubert syndrome 27 AR 3 617120 B9D1 614144
17q22 Joubert syndrome 28 AR 3 617121 MKS1 609883
19q13.2 Joubert syndrome 34 AR 3 614175 B9D2 611951
19q13.2 ?Meckel syndrome 10 AR 3 614175 B9D2 611951
Xp22.2 Joubert syndrome 10 XLR 3 300804 OFD1 300170
▲ Close
ICD+
ORPHA: 2754, 475
DO: 0110981
▲ Close

3:
# 608091. JOUBERT SYNDROME 2; JBTS2
Cytogenetic location: 11q12.2
Matching terms: 608091
► 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
11q12.2 Joubert syndrome 2 608091 AR 3 TMEM216 613277
▲ Close
Joubert syndrome - PS213300 - 43 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p36.32 Joubert syndrome 25 AR 3 616781 CEP104 616690
2q13 Joubert syndrome 4 AR 3 609583 NPHP1 607100
2q33.1 Joubert syndrome 14 AR 3 614424 TMEM237 614423
2q37.1 Joubert syndrome 30 AR 3 617622 ARMC9 617612
2q37.1 Joubert syndrome 22 AR 3 615665 PDE6D 602676
3q11.1-q11.2 Joubert syndrome 8 AR 3 612291 ARL13B 608922
4p15.32 Joubert syndrome 9 AR 3 612285 CC2D2A 612013
5p13.2 Joubert syndrome 17 AR 3 614615 CPLANE1 614571
5q23.2 Joubert syndrome 31 AR 3 617761 CEP120 613446
6q23.3 Joubert syndrome 3 AR 3 608629 AHI1 608894
7q32.2 Joubert syndrome 15 AR 3 614464 CEP41 610523
8q13.1-q13.2 Joubert syndrome 21 AR 3 615636 CSPP1 611654
8q22.1 Joubert syndrome 6 AR 3 610688 TMEM67 609884
9p21.2 Joubert syndrome 40 AR 3 619582 IFT74 608040
9q34.3 Joubert syndrome 1 AR 3 213300 INPP5E 613037
10q22.2 Joubert syndrome 36 AR 3 618763 FAM149B1 618413
10q24.1 Joubert syndrome 18 AR 3 614815 TCTN3 613847
10q24.32 Joubert syndrome 32 AR 3 617757 SUFU 607035
10q24.32 Joubert syndrome 35 AR 3 618161 ARL3 604695
11q12.2 Joubert syndrome 16 AR 3 614465 TMEM138 614459
11q12.2 Joubert syndrome 2 AR 3 608091 TMEM216 613277
11q24.2 Joubert syndrome 39 AR 3 619562 TMEM218 619285
12q21.32 Joubert syndrome 5 AR 3 610188 CEP290 610142
12q24.11 Joubert syndrome 13 AR 3 614173 TCTN1 609863
12q24.31 Joubert syndrome 24 AR 3 616654 TCTN2 613846
13q21.33-q22.1 Joubert syndrome 33 AR 3 617767 PIBF1 607532
14q21.2 Joubert syndrome 37 AR 3 619185 TOGARAM1 617618
14q23.1 Joubert syndrome 23 AR 3 616490 KIAA0586 610178
15q26.1 Acrocallosal syndrome AR 3 200990 KIF7 611254
15q26.1 Joubert syndrome 12 AR 3 200990 KIF7 611254
16p12.1 Joubert syndrome 26 AR 3 616784 KATNIP 616650
16q12.1 Joubert syndrome 19 AD, AR 3 614844 ZNF423 604557
16q12.1 Nephronophthisis 14 AD, AR 3 614844 ZNF423 604557
16q12.2 Joubert syndrome 7 AR 3 611560 RPGRIP1L 610937
16q23.1 Joubert syndrome 20 AR 3 614970 TMEM231 614949
17p13.1 ?Joubert syndrome 38 AR 3 619476 KIAA0753 617112
17p13.1 ?Joubert syndrome 29 AR 3 617562 TMEM107 616183
17p13.1 Meckel syndrome 13 AR 3 617562 TMEM107 616183
17p11.2 Joubert syndrome 27 AR 3 617120 B9D1 614144
17q22 Joubert syndrome 28 AR 3 617121 MKS1 609883
19q13.2 Joubert syndrome 34 AR 3 614175 B9D2 611951
19q13.2 ?Meckel syndrome 10 AR 3 614175 B9D2 611951
Xp22.2 Joubert syndrome 10 XLR 3 300804 OFD1 300170
▲ Close
ICD+
ORPHA: 2318, 475
DO: 0110988
▲ Close

4:
# 608629. JOUBERT SYNDROME 3; JBTS3
Cytogenetic location: 6q23.3
Matching terms: 608629
► 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
6q23.3 Joubert syndrome 3 608629 AR 3 AHI1 608894
▲ Close
Joubert syndrome - PS213300 - 43 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p36.32 Joubert syndrome 25 AR 3 616781 CEP104 616690
2q13 Joubert syndrome 4 AR 3 609583 NPHP1 607100
2q33.1 Joubert syndrome 14 AR 3 614424 TMEM237 614423
2q37.1 Joubert syndrome 30 AR 3 617622 ARMC9 617612
2q37.1 Joubert syndrome 22 AR 3 615665 PDE6D 602676
3q11.1-q11.2 Joubert syndrome 8 AR 3 612291 ARL13B 608922
4p15.32 Joubert syndrome 9 AR 3 612285 CC2D2A 612013
5p13.2 Joubert syndrome 17 AR 3 614615 CPLANE1 614571
5q23.2 Joubert syndrome 31 AR 3 617761 CEP120 613446
6q23.3 Joubert syndrome 3 AR 3 608629 AHI1 608894
7q32.2 Joubert syndrome 15 AR 3 614464 CEP41 610523
8q13.1-q13.2 Joubert syndrome 21 AR 3 615636 CSPP1 611654
8q22.1 Joubert syndrome 6 AR 3 610688 TMEM67 609884
9p21.2 Joubert syndrome 40 AR 3 619582 IFT74 608040
9q34.3 Joubert syndrome 1 AR 3 213300 INPP5E 613037
10q22.2 Joubert syndrome 36 AR 3 618763 FAM149B1 618413
10q24.1 Joubert syndrome 18 AR 3 614815 TCTN3 613847
10q24.32 Joubert syndrome 32 AR 3 617757 SUFU 607035
10q24.32 Joubert syndrome 35 AR 3 618161 ARL3 604695
11q12.2 Joubert syndrome 16 AR 3 614465 TMEM138 614459
11q12.2 Joubert syndrome 2 AR 3 608091 TMEM216 613277
11q24.2 Joubert syndrome 39 AR 3 619562 TMEM218 619285
12q21.32 Joubert syndrome 5 AR 3 610188 CEP290 610142
12q24.11 Joubert syndrome 13 AR 3 614173 TCTN1 609863
12q24.31 Joubert syndrome 24 AR 3 616654 TCTN2 613846
13q21.33-q22.1 Joubert syndrome 33 AR 3 617767 PIBF1 607532
14q21.2 Joubert syndrome 37 AR 3 619185 TOGARAM1 617618
14q23.1 Joubert syndrome 23 AR 3 616490 KIAA0586 610178
15q26.1 Acrocallosal syndrome AR 3 200990 KIF7 611254
15q26.1 Joubert syndrome 12 AR 3 200990 KIF7 611254
16p12.1 Joubert syndrome 26 AR 3 616784 KATNIP 616650
16q12.1 Joubert syndrome 19 AD, AR 3 614844 ZNF423 604557
16q12.1 Nephronophthisis 14 AD, AR 3 614844 ZNF423 604557
16q12.2 Joubert syndrome 7 AR 3 611560 RPGRIP1L 610937
16q23.1 Joubert syndrome 20 AR 3 614970 TMEM231 614949
17p13.1 ?Joubert syndrome 38 AR 3 619476 KIAA0753 617112
17p13.1 ?Joubert syndrome 29 AR 3 617562 TMEM107 616183
17p13.1 Meckel syndrome 13 AR 3 617562 TMEM107 616183
17p11.2 Joubert syndrome 27 AR 3 617120 B9D1 614144
17q22 Joubert syndrome 28 AR 3 617121 MKS1 609883
19q13.2 Joubert syndrome 34 AR 3 614175 B9D2 611951
19q13.2 ?Meckel syndrome 10 AR 3 614175 B9D2 611951
Xp22.2 Joubert syndrome 10 XLR 3 300804 OFD1 300170
▲ Close
ICD+
ORPHA: 220493, 475
DO: 0110998
▲ Close

5:
* 608894. ABELSON HELPER INTEGRATION SITE 1; AHI1
Cytogenetic location: 6q23.3, Genomic coordinates (GRCh38): 6:135,283,532-135,497,740
Matching terms: 608894
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
6q23.3 Joubert syndrome 3 608629 AR 3
▲ Close

6:
* 608922. ADP-RIBOSYLATION FACTOR-LIKE GTPase 13B; ARL13B
Cytogenetic location: 3q11.1-q11.2, Genomic coordinates (GRCh38): 3:93,980,155-94,055,678
Matching terms: 608922
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
3q11.1-q11.2 Joubert syndrome 8 612291 AR 3
▲ Close

7:
# 609583. JOUBERT SYNDROME 4; JBTS4
Cytogenetic location: 2q13
Matching terms: 609583
► 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
2q13 Joubert syndrome 4 609583 AR 3 NPHP1 607100
▲ Close
Joubert syndrome - PS213300 - 43 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p36.32 Joubert syndrome 25 AR 3 616781 CEP104 616690
2q13 Joubert syndrome 4 AR 3 609583 NPHP1 607100
2q33.1 Joubert syndrome 14 AR 3 614424 TMEM237 614423
2q37.1 Joubert syndrome 30 AR 3 617622 ARMC9 617612
2q37.1 Joubert syndrome 22 AR 3 615665 PDE6D 602676
3q11.1-q11.2 Joubert syndrome 8 AR 3 612291 ARL13B 608922
4p15.32 Joubert syndrome 9 AR 3 612285 CC2D2A 612013
5p13.2 Joubert syndrome 17 AR 3 614615 CPLANE1 614571
5q23.2 Joubert syndrome 31 AR 3 617761 CEP120 613446
6q23.3 Joubert syndrome 3 AR 3 608629 AHI1 608894
7q32.2 Joubert syndrome 15 AR 3 614464 CEP41 610523
8q13.1-q13.2 Joubert syndrome 21 AR 3 615636 CSPP1 611654
8q22.1 Joubert syndrome 6 AR 3 610688 TMEM67 609884
9p21.2 Joubert syndrome 40 AR 3 619582 IFT74 608040
9q34.3 Joubert syndrome 1 AR 3 213300 INPP5E 613037
10q22.2 Joubert syndrome 36 AR 3 618763 FAM149B1 618413
10q24.1 Joubert syndrome 18 AR 3 614815 TCTN3 613847
10q24.32 Joubert syndrome 32 AR 3 617757 SUFU 607035
10q24.32 Joubert syndrome 35 AR 3 618161 ARL3 604695
11q12.2 Joubert syndrome 16 AR 3 614465 TMEM138 614459
11q12.2 Joubert syndrome 2 AR 3 608091 TMEM216 613277
11q24.2 Joubert syndrome 39 AR 3 619562 TMEM218 619285
12q21.32 Joubert syndrome 5 AR 3 610188 CEP290 610142
12q24.11 Joubert syndrome 13 AR 3 614173 TCTN1 609863
12q24.31 Joubert syndrome 24 AR 3 616654 TCTN2 613846
13q21.33-q22.1 Joubert syndrome 33 AR 3 617767 PIBF1 607532
14q21.2 Joubert syndrome 37 AR 3 619185 TOGARAM1 617618
14q23.1 Joubert syndrome 23 AR 3 616490 KIAA0586 610178
15q26.1 Acrocallosal syndrome AR 3 200990 KIF7 611254
15q26.1 Joubert syndrome 12 AR 3 200990 KIF7 611254
16p12.1 Joubert syndrome 26 AR 3 616784 KATNIP 616650
16q12.1 Joubert syndrome 19 AD, AR 3 614844 ZNF423 604557
16q12.1 Nephronophthisis 14 AD, AR 3 614844 ZNF423 604557
16q12.2 Joubert syndrome 7 AR 3 611560 RPGRIP1L 610937
16q23.1 Joubert syndrome 20 AR 3 614970 TMEM231 614949
17p13.1 ?Joubert syndrome 38 AR 3 619476 KIAA0753 617112
17p13.1 ?Joubert syndrome 29 AR 3 617562 TMEM107 616183
17p13.1 Meckel syndrome 13 AR 3 617562 TMEM107 616183
17p11.2 Joubert syndrome 27 AR 3 617120 B9D1 614144
17q22 Joubert syndrome 28 AR 3 617121 MKS1 609883
19q13.2 Joubert syndrome 34 AR 3 614175 B9D2 611951
19q13.2 ?Meckel syndrome 10 AR 3 614175 B9D2 611951
Xp22.2 Joubert syndrome 10 XLR 3 300804 OFD1 300170
▲ Close
ICD+
ORPHA: 220497, 475
DO: 0110999
▲ Close

8:
* 609863. TECTONIC FAMILY, MEMBER 1; TCTN1
Cytogenetic location: 12q24.11, Genomic coordinates (GRCh38): 12:110,614,129-110,649,430
Matching terms: 609863
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
12q24.11 Joubert syndrome 13 614173 AR 3
▲ Close

9:
* 609883. MKS TRANSITION ZONE COMPLEX SUBUNIT 1; MKS1
Cytogenetic location: 17q22, Genomic coordinates (GRCh38): 17:58,205,441-58,219,255
Matching terms: 609883
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
17q22 Bardet-Biedl syndrome 13 615990 AR 3
Joubert syndrome 28 617121 AR 3
Meckel syndrome 1 249000 AR 3
▲ Close

10:
* 609884. TRANSMEMBRANE PROTEIN 67; TMEM67
Cytogenetic location: 8q22.1, Genomic coordinates (GRCh38): 8:93,754,844-93,832,653
Matching terms: 609884
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
8q22.1 ?RHYNS syndrome 602152 AR 3
{Bardet-Biedl syndrome 14, modifier of} 615991 AR 3
COACH syndrome 1 216360 AR 3
Joubert syndrome 6 610688 AR 3
Meckel syndrome 3 607361 AR 3
Nephronophthisis 11 613550 AR 3
▲ Close
ICD+
SNOMEDCT: 723999009
▲ Close

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Search: 213300 243910 300170 300804 602676 604557 607100 607386 608091 608629 608894 608922 609583 609863 609883 609884 610142 610178 610188 610523 610688 610937 611254 611560 611654 611951 612013 612014 612285 612291 613037 613277 613446 613820 613846 613847 614144 614173 614423 614424 614459 614464 614465 614571 614615 614784 614815 614844 614949 614970 615636 615665 615944 616183 616490 616650 616654 616690 616781 616784 617120 617121 617761 (Search in: MIM number)
Results: 63 entries.

1:
* 300170. OFD1 CENTRIOLE AND CENTRIOLAR SATELLITE PROTEIN; OFD1
Cytogenetic location: Xp22.2, Genomic coordinates (GRCh38): X:13,714,505-13,773,738
Matching terms: 300170

2:
# 300804. JOUBERT SYNDROME 10; JBTS10
Cytogenetic location: Xp22.2
Matching terms: 300804

3:
# 608091. JOUBERT SYNDROME 2; JBTS2
Cytogenetic location: 11q12.2
Matching terms: 608091

4:
# 608629. JOUBERT SYNDROME 3; JBTS3
Cytogenetic location: 6q23.3
Matching terms: 608629

5:
* 608894. ABELSON HELPER INTEGRATION SITE 1; AHI1
Cytogenetic location: 6q23.3, Genomic coordinates (GRCh38): 6:135,283,532-135,497,740
Matching terms: 608894

6:
* 608922. ADP-RIBOSYLATION FACTOR-LIKE GTPase 13B; ARL13B
Cytogenetic location: 3q11.1-q11.2, Genomic coordinates (GRCh38): 3:93,980,155-94,055,678
Matching terms: 608922

7:
# 609583. JOUBERT SYNDROME 4; JBTS4
Cytogenetic location: 2q13
Matching terms: 609583

8:
* 609863. TECTONIC FAMILY, MEMBER 1; TCTN1
Cytogenetic location: 12q24.11, Genomic coordinates (GRCh38): 12:110,614,129-110,649,430
Matching terms: 609863

9:
* 609883. MKS TRANSITION ZONE COMPLEX SUBUNIT 1; MKS1
Cytogenetic location: 17q22, Genomic coordinates (GRCh38): 17:58,205,441-58,219,255
Matching terms: 609883

10:
* 609884. TRANSMEMBRANE PROTEIN 67; TMEM67
Cytogenetic location: 8q22.1, Genomic coordinates (GRCh38): 8:93,754,844-93,832,653
Matching terms: 609884


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.

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