developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies Disease Ontology Browser

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developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies (DOID:0070712)
Alliance: disease page
Synonyms: DEDCRF
Alt IDs: OMIM:621384
Definition: An autosomal recessive intellectual developmental disorder characterized by congenital anomalies that mainly affect the cardiac and/or renal systems, dysmorphic craniofacial features apparent from birth, and mild to moderate neurodevelopmental delay, usually with hypotonia, delayed walking, impaired intellectual development, and poor speech acquisition, that has_material_basis_in homozygous mutation in the PAN2 gene on chromosome 12q13.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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