syndromic X-linked intellectual disability Cabezas type

A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and abnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine moto

A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and abnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has_material_basis_in mutation in the CUL4B gene on chromosome Xq24.

Signs and symptoms

• Intellectual disability
• Motor delay
• Delayed speech and language development
• Pes cavus
• Sandal gap
• Tremor
• Aggressive behavior
• Abdominal obesity
• Seizure
• Gynecomastia

Also known as: Cabezas syndrome; syndromic X-linked mental retardation 15; MRSS; MRXS15; MRXSC; X-linked mental retardation with short stature