Entry Search - 123833 603157 603387 611223 615937 615938 - OMIM
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Search: '123833 603157 603387 611223 615937 615938 (Search in: MIM number)'
Results: 6 entries.

1:
# 603387. MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1; MPPH1
Cytogenetic location: 19p13.11
Matching terms: 603387
► 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
19p13.11 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387 AD 3 PIK3R2 603157
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ICD+
ORPHA: 83473
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2:
* 611223. AKT SERINE/THREONINE KINASE 3; AKT3
MAGI3/AKT3 FUSION GENE, INCLUDED
Cytogenetic location: 1q43-q44, Genomic coordinates (GRCh38): 1:243,488,233-243,851,079
Matching terms: 611223
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
1q43-q44 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937 AD 3
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3:
# 615937. MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2; MPPH2
Cytogenetic location: 1q43-q44
Matching terms: 615937
► 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
1q43-q44 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937 AD 3 AKT3 611223
▲ Close
ICD+
ORPHA: 83473
▲ Close

4:
# 615938. MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3; MPPH3
Cytogenetic location: 12p13.32
Matching terms: 615938
► 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
12p13.32 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 615938 AD 3 CCND2 123833
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ICD+
ORPHA: 83473
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5:
* 123833. CYCLIN D2; CCND2
Cytogenetic location: 12p13.32, Genomic coordinates (GRCh38): 12:4,273,762-4,305,353
Matching terms: 123833
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
12p13.32 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 615938 AD 3
▲ Close

6:
* 603157. PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT 2; PIK3R2
PIK3R2/UPS8 FUSION GENE, INCLUDED
Cytogenetic location: 19p13.11, Genomic coordinates (GRCh38): 19:18,153,163-18,170,532
Matching terms: 603157
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
19p13.11 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387 AD 3
▲ Close
Search: 123833 603157 603387 611223 615937 615938 (Search in: MIM number)
Results: 6 entries.

1:
# 603387. MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1; MPPH1
Cytogenetic location: 19p13.11
Matching terms: 603387

2:
* 611223. AKT SERINE/THREONINE KINASE 3; AKT3
MAGI3/AKT3 FUSION GENE, INCLUDED
Cytogenetic location: 1q43-q44, Genomic coordinates (GRCh38): 1:243,488,233-243,851,079
Matching terms: 611223

3:
# 615937. MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2; MPPH2
Cytogenetic location: 1q43-q44
Matching terms: 615937

4:
# 615938. MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3; MPPH3
Cytogenetic location: 12p13.32
Matching terms: 615938

5:
* 123833. CYCLIN D2; CCND2
Cytogenetic location: 12p13.32, Genomic coordinates (GRCh38): 12:4,273,762-4,305,353
Matching terms: 123833

6:
* 603157. PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT 2; PIK3R2
PIK3R2/UPS8 FUSION GENE, INCLUDED
Cytogenetic location: 19p13.11, Genomic coordinates (GRCh38): 19:18,153,163-18,170,532
Matching terms: 603157


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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