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GTR Home > Conditions/Phenotypes > Intellectual developmental disorder, autosomal dominant 72

Intellectual developmental disorder, autosomal dominant 72

Summary

Autosomal dominant intellectual developmental disorder-72 (MRD72) is characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features (Cuinat et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: 300-KD, CWF21, Cwc21, HSPC075, MRD72, SRL300, SRm300, SRRM2
    Summary: serine/arginine repetitive matrix 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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