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GTR Home > Conditions/Phenotypes > Intellectual developmental disorder, autosomal recessive 69

Intellectual developmental disorder, autosomal recessive 69

Synonyms
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES, COGNITIVE DECLINE, AND BRAIN ABNORMALITIES

Summary

Neurodevelopmental disorder with progressive movement abnormalities, cognitive decline, and brain abnormalities (NEDMCB) is an autosomal recessive disorder characterized by global developmental delay and developmental regression resulting in variably impaired intellectual development with poor or absent speech, difficulty walking or inability to walk, and various movement abnormalities, including spasticity, hypertonia, dystonia, tremor, and myoclonus. Affected individuals usually show poor overall growth, often with microcephaly, hypotonia, limb contractures, and cataracts. Most have progressive brain imaging abnormalities, including enlarged ventricles, white matter loss, and cerebellar atrophy. A subset of patients have combined malonic and methylmalonic aciduria (CMAMMA), although this is not a reliable biomarker (Ortigoza-Escobar et al., 2024). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MRT69, ZNF-U69274, ZNF913, ZBTB11
    Summary: zinc finger and BTB domain containing 11

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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