SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY

MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY

http://purl.bioontology.org/ontology/OMIM/159950

MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY

SMAPME

C1834569

8p22-p21.3

AC

ASAH1

SMAPME

http://purl.bioontology.org/ontology/OMIM/MTHU036951

http://purl.bioontology.org/ontology/OMIM/MTHU036957

http://purl.bioontology.org/ontology/OMIM/MTHU003217

http://purl.bioontology.org/ontology/OMIM/MTHU003514

http://purl.bioontology.org/ontology/OMIM/MTHU036949

http://purl.bioontology.org/ontology/OMIM/MTHU034355

http://purl.bioontology.org/ontology/OMIM/MTHU009234

http://purl.bioontology.org/ontology/OMIM/MTHU000650

http://purl.bioontology.org/ontology/OMIM/MTHU005751

http://purl.bioontology.org/ontology/OMIM/MTHU031268

http://purl.bioontology.org/ontology/OMIM/MTHU010840

http://purl.bioontology.org/ontology/OMIM/MTHU002980

http://purl.bioontology.org/ontology/OMIM/MTHU001140

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU000331

http://purl.bioontology.org/ontology/OMIM/MTHU036948

http://purl.bioontology.org/ontology/OMIM/MTHU020187

http://purl.bioontology.org/ontology/OMIM/MTHU036956

http://purl.bioontology.org/ontology/OMIM/MTHU036950

http://purl.bioontology.org/ontology/OMIM/MTHU001772

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

http://purl.bioontology.org/ontology/OMIM/MTHU001707

http://purl.bioontology.org/ontology/OMIM/MTHU000329

Phenotype description, molecular basis known.

159950

3

pound

SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY

Onset of muscle weakness around age 5 years [MISCELLANEOUS]

Caused by mutation in the N-acylsphingosine amidohydrolase 1 gene (ASAH1, 613468.0006) [MOLECULAR BASIS]

Progressive disorder [MISCELLANEOUS]

Seizures are sensitive to hyperventilation [MISCELLANEOUS]

Onset of seizures around 7 to 12 years [MISCELLANEOUS]

T047