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GTR Home > Conditions/Phenotypes > Short stature-brachydactyly-obesity-global developmental delay syndrome

Short stature-brachydactyly-obesity-global developmental delay syndrome

Synonyms
SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES; Short stature, brachydactyly, intellectual developmental disability, and seizures
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A rare genetic, multiple congenital anomalies syndrome characterized by short stature, hand brachydactyly with hypoplastic distal phalanges, global development delay, intellectual disability, and more variably seizures, obesity, and craniofacial dysmorphism that includes microcephaly, high forehead, flat face, hypertelorism, deep set eyes, flat nasal bridge, averted nostrils, long philtrum, thin lip vermilion, and short neck. [from ORDO]

Available tests

11 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: SBIDDS, PRMT7
    Summary: protein arginine methyltransferase 7

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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