developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies

Term ID

DOID:0070712

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. https://pubmed.ncbi.nlm.nih.gov/35304602/

References

• MIM:621384

Ontology

Human Disease   ( DOID:0070712 )