FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1

FACIOSCAPULOHUMERAL DYSTROPHY WITH SENSORINEURAL HEARING LOSS AND TORTUOSITY OF RETINAL ARTERIOLES

http://purl.bioontology.org/ontology/OMIM/158900

FACIOSCAPULOHUMERAL DYSTROPHY WITH SENSORINEURAL HEARING LOSS AND TORTUOSITY OF RETINAL ARTERIOLES

FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY

MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 1A

FSHD1A

LANDOUZY-DEJERINE MUSCULAR DYSTROPHY

FSHD1

FMD

FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY, INFANTILE

MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 1

FSHD

C1834673

C0238288

C5399970

4q35

FSHD1

FSHD1A

http://purl.bioontology.org/ontology/OMIM/MTHU000660

http://purl.bioontology.org/ontology/OMIM/MTHU024047

http://purl.bioontology.org/ontology/OMIM/MTHU036444

http://purl.bioontology.org/ontology/OMIM/MTHU073483

http://purl.bioontology.org/ontology/OMIM/MTHU024037

http://purl.bioontology.org/ontology/OMIM/MTHU024036

http://purl.bioontology.org/ontology/OMIM/MTHU024049

http://purl.bioontology.org/ontology/OMIM/MTHU061712

http://purl.bioontology.org/ontology/OMIM/MTHU024035

http://purl.bioontology.org/ontology/OMIM/MTHU002771

http://purl.bioontology.org/ontology/OMIM/MTHU036443

http://purl.bioontology.org/ontology/OMIM/MTHU024046

http://purl.bioontology.org/ontology/OMIM/MTHU024045

http://purl.bioontology.org/ontology/OMIM/MTHU024044

http://purl.bioontology.org/ontology/OMIM/MTHU002207

http://purl.bioontology.org/ontology/OMIM/MTHU000195

http://purl.bioontology.org/ontology/OMIM/MTHU024043

http://purl.bioontology.org/ontology/OMIM/MTHU073481

http://purl.bioontology.org/ontology/OMIM/MTHU024048

http://purl.bioontology.org/ontology/OMIM/MTHU024038

http://purl.bioontology.org/ontology/OMIM/MTHU073484

http://purl.bioontology.org/ontology/OMIM/MTHU041362

http://purl.bioontology.org/ontology/OMIM/MTHU024041

http://purl.bioontology.org/ontology/OMIM/MTHU073482

http://purl.bioontology.org/ontology/OMIM/MTHU000242

Phenotype description, molecular basis known.

158900

3

pound

FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1

Incidence 1 in 20,000 [MISCELLANEOUS]

Slowly progressive [MISCELLANEOUS]

Onset range childhood to adulthood [MISCELLANEOUS]

Clinical variability [MISCELLANEOUS]

Incomplete penetrance [MISCELLANEOUS]

Caused by contraction of a D4Z4 repeat array at chromosome 4q35 [MOLECULAR BASIS]

T047