Table 2. The diagnostic criteria including genetic variants and symptoms that were seen in our patient.

Gene mutation	Variant	Symptoms (appears at birth or a few months later)
ANTXR2 (NM_058172.6)	c.134 T>C p.(Leu45Pro) chr4:80993581	Musculoskeletal	Severe pain causing reduced spontaneous movement.
			Progressive joint contractures.
			Osteopenia.
		Gastrointestinal	Gastrointestinal symptoms (refractory diarrhea).
			Protein-losing enteropathy.
			Gingival hypertrophy.
		Dermatological	Hyperpigmentation over joints and bony prominence (over the Neck, Scalp, and Face).
			Fleshy nodules (perianally).
			Progressive skin thickening.
		Infectious disease	Recurrent infections.