autosomal dominant intellectual developmental disorder 68

An autosomal dominant intellectual developmental disorder characterized by developmental delay/intellectual disability, primary autosomal recessive microcephaly, poor growth, feeding difficulties, and dysmorphic features that has_material_basis_in heterozygous

An autosomal dominant intellectual developmental disorder characterized by developmental delay/intellectual disability, primary autosomal recessive microcephaly, poor growth, feeding difficulties, and dysmorphic features that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19q13.

Signs and symptoms

• Poor speech
• Absent earlobe
• Urinary incontinence
• Narrow palm
• Sparse hair
• Severe intellectual disability
• Nystagmus
• Broad hallux
• High palate
• Patent ductus arteriosus