Entry Search - 210710 226960 601428 616651 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '210710 226960 601428 616651 (Search in: MIM number)'
Results: 4 entries.

1:
* 601428. RNA, U4ATAC SMALL NUCLEAR; RNU4ATAC
Cytogenetic location: 2q14.2, Genomic coordinates (GRCh38): 2:121,530,880-121,531,009
Matching terms: 601428
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
2q14.2 Lowry-Wood syndrome 226960 AR 3
Microcephalic osteodysplastic primordial dwarfism, type I 210710 AR 3
Roifman syndrome 616651 AR 3
▲ Close
ICD+
SNOMEDCT: 254102008, 721975004, 773404000
▲ Close

2:
# 226960. LOWRY-WOOD SYNDROME; LWS
Cytogenetic location: 2q14.2
Matching terms: 226960
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
2q14.2 Lowry-Wood syndrome 226960 AR 3 RNU4ATAC 601428
▲ Close
ICD+
SNOMEDCT: 721975004
ORPHA: 1824
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3:
# 616651. ROIFMAN SYNDROME; RFMN
Cytogenetic location: 2q14.2
Matching terms: 616651
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
2q14.2 Roifman syndrome 616651 AR 3 RNU4ATAC 601428
▲ Close
ICD+
SNOMEDCT: 773404000
ORPHA: 353298
▲ Close

4:
# 210710. MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; MOPD1
Cytogenetic location: 2q14.2
Matching terms: 210710
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
2q14.2 Microcephalic osteodysplastic primordial dwarfism, type I 210710 AR 3 RNU4ATAC 601428
▲ Close
ICD+
SNOMEDCT: 254102008
ORPHA: 2636
DO: 0060608
▲ Close
Search: 210710 226960 601428 616651 (Search in: MIM number)
Results: 4 entries.

1:
* 601428. RNA, U4ATAC SMALL NUCLEAR; RNU4ATAC
Cytogenetic location: 2q14.2, Genomic coordinates (GRCh38): 2:121,530,880-121,531,009
Matching terms: 601428

2:
# 226960. LOWRY-WOOD SYNDROME; LWS
Cytogenetic location: 2q14.2
Matching terms: 226960

3:
# 616651. ROIFMAN SYNDROME; RFMN
Cytogenetic location: 2q14.2
Matching terms: 616651

4:
# 210710. MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; MOPD1
Cytogenetic location: 2q14.2
Matching terms: 210710


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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