Term Name:	developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies
Synonyms:	DEDCRF
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.
Ontology:	Human Disease [DOID:0070712]   ( DOID:0070712 )