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Mannose 6-phosphate receptor recognition defect, Lebanese type

MedGen UID:
331911
Concept ID:
C1835134
Disease or Syndrome
Synonyms: PHOSPHODIESTER GLYCOSIDE DEFICIENCY
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
OMIM®: 154570

Clinical features

Abnormality of lysosomal metabolism
MedGen UID:
870881
Concept ID:
C4025342
Finding

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