Entry Search - 253800 607440 - OMIM
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Search: '253800 607440 (Search in: MIM number)'
Results: 2 entries.

1:
* 607440. FUKUTIN; FKTN
Cytogenetic location: 9q31.2, Genomic coordinates (GRCh38): 9:105,558,130-105,641,118
Matching terms: 607440
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
9q31.2 Cardiomyopathy, dilated, 1X 611615 AR 3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800 AR 3
Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4 613152 AR 3
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588 AR 3
ICD+
SNOMEDCT: 111502003, 726618007

2:
# 253800. MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4
Cytogenetic location: 9q31.2
Matching terms: 253800
 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
9q31.2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800 AR 3 FKTN 607440
Muscular dystrophy-dystroglycanopathy, type A - PS236670 - 14 Entries
Location Phenotype Inheritance Phenotype
mapping key
Phenotype
MIM number
Gene/Locus Gene/Locus
MIM number
1p34.1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 AR 3 253280 POMGNT1 606822
1q42.3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11 AR 3 615181 B3GALNT2 610194
3p22.1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 AR 3 614830 POMGNT2 614828
3p21.31 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 AR 3 616538 DAG1 128239
3p21.31 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 AR 3 615350 GMPPB 615320
7p21.2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 AR 3 614643 CRPPA 614631
8p11.21 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 AR 3 615249 POMK 615247
9q31.2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 AR 3 253800 FKTN 607440
9q34.13 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 AR 3 236670 POMT1 607423
11q13.2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 AR 3 615287 B4GAT1 605517
12q14.2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 AR 3 615041 RXYLT1 605862
14q24.3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 AR 3 613150 POMT2 607439
19q13.32 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 AR 3 613153 FKRP 606596
22q12.3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 AR 3 613154 LARGE1 603590
ICD+
SNOMEDCT: 111502003
ORPHA: 272, 588, 899
DO: 0050559
Search: 253800 607440 (Search in: MIM number)
Results: 2 entries.

1:
* 607440. FUKUTIN; FKTN
Cytogenetic location: 9q31.2, Genomic coordinates (GRCh38): 9:105,558,130-105,641,118
Matching terms: 607440

2:
# 253800. MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4
Cytogenetic location: 9q31.2
Matching terms: 253800