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GTR Home > Conditions/Phenotypes > Lethal polymalformative syndrome, Boissel type

Lethal polymalformative syndrome, Boissel type

Synonyms
GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM; Growth retardation, developmental delay, coarse facies, and early death
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Growth retardation, developmental delay, and facial dysmorphism (GDFD) is an autosomal recessive multiple congenital anomaly syndrome characterized by severe psychomotor retardation, poor overall growth, and dysmorphic facial features. Additional features may include cardiac malformations and deafness (summary by Daoud et al., 2016). [from OMIM]

Available tests

9 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ALKBH9, BMIQ14, GDFD, IFEX9, FTO
    Summary: FTO alpha-ketoglutarate dependent dioxygenase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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