Disease #03978

Official abbreviation MMDD
Name myopathy, due to myoadenylate deaminase deficiency (MMDD)
OMIM ID 615511
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene AMPD1
Associated tissues -
Disease features autosomal recessive
Remarks -


Individuals

1 entry on 1 page. Showing entry 1.
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00134082 96042 - family, 2 affected siblings M yes Syria - 08y 0 - - MMDD global developmental delay, muscular hypotonia, joint contractures (leg), no speech, hydrocephalus, cryptochism, CK elevation (2500 U/l) POMGNT1 POMGNT2 1 2 Andreas Laner
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