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

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 w

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.

Signs and symptoms

• Neoplasm
• Anal atresia
• Trigonocephaly
• Moderate to late preterm birth
• Renal insufficiency
• Ectopic kidney
• Gastroesophageal reflux
• Gait imbalance
• Duplicated collecting system
• Anal fistula

Also known as: DEDCRF