neurocardiorenal malformation syndrome

A physical disorder characterized by severe developmental delay associated with microcephaly, distinctive facial features, and multiorgan involvement including cardiac and renal malformations that has_material_basis_in homozygous or compound heterozygous mutat

A physical disorder characterized by severe developmental delay associated with microcephaly, distinctive facial features, and multiorgan involvement including cardiac and renal malformations that has_material_basis_in homozygous or compound heterozygous mutation in the TM2D3 gene on chromosome 15q26.

Signs and symptoms

• 3-4 finger cutaneous syndactyly
• Small scrotum
• Syringomyelia
• Narrow mouth
• Gait ataxia
• Delayed eruption of primary teeth
• Optic disc drusen
• Sparse eyebrow
• Episodic hemiplegia
• Dry skin