FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term microcephaly with or without chorioretinopathy, lymphedema, or mental retardation ID (Ontology) DOID:0060349 (Human Disease)
Definition A syndrome characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.
Also Known As "chorioretinal dysplasia-microcephaly-mental retardation syndrome" ; "lymphedema and retinal folds with ficrocephaly and microphthalmos" ; "lymphedema, microcephaly and chorioretinopathy syndrome" (for all, see Synonyms field below)
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 Alleles Genes
 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation       1      1
 for disease ribbon | microcephaly with or without chorioretinopathy, lymphedema, or mental retardation       --       1
 model of | microcephaly with or without chorioretinopathy, lymphedema, or mental retardation       1      1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  2 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "chorioretinal dysplasia-microcephaly-mental retardation syndrome" EXACT
    "lymphedema and retinal folds with ficrocephaly and microphthalmos" EXACT
    "lymphedema, microcephaly and chorioretinopathy syndrome" EXACT
    "microcephaly lymphedema chorioretinal dysplasia" EXACT
    "microcephaly, lymphedema, chorioretinal dysplasia syndrome" EXACT
Secondary IDs
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MESH:C537711
MIM:152950
ORDO:2526
UMLS_CUI:C1835265